Ancient DNA – Academic research seldom reports on Y and mitochondrial DNA today and is firmly focused on sequencing ancient DNA. Ancient genome sequencing has only recently been developed to a state where at least some remains can be successfully sequenced, but it’s going great guns now. Take a look at Jennifer Raff’s article in Forbes that discusses ancient DNA findings in the Americas, Europe, Southeast Asia and perhaps most surprising, a first generation descendant of a Neanderthal and a Denisovan.

From Early human dispersals within the Americas by Moreno-Mayer et al, Science 07 Dec 2018

I look for 2019 and on into the future to hold many more revelations thanks to ancient DNA sequencing as well as using those sequences to assist in understanding the migration patterns of ancient people that eventually became us.

Barbara Rae-Venter and the Golden State Killer Case

Using techniques that adoptees use to identify their close relatives and eventually, their parents, Barbara Rae-Venter assisted law enforcement with identifying the man, Joseph DeAngelo, accused (not yet convicted) of being the Golden State Killer (GSK).

DNA is also represented on the 2018 Nature list by Viviane Slon, a palaeogeneticist who discovered an ancient half Neanderthal, half Denisovan individual and sequenced their DNA and He JianKui, a Chinese scientist who claims to have created a gene-edited baby which has sparked widespread controversy. As of the end of the year, He Jiankui’s research activities have been suspended and he is reportedly sequestered in his apartment, under guard, although the details are far from clear.

In 2013, 23andMe patented the technology for designer babies and I removed my kit from their research program. I was concerned at the time that this technology knife could cut two ways, both for good, eliminating fatal disease-causing mutations and also for ethically questionable practices, such as eugenics. I was told at the time that my fears were unfounded, because that “couldn’t be done.” Well, 5 years later, here we are. I expect the debate about the ethics and eventual regulation of gene-editing will rage globally for years to come.

Elizabeth Warren’s DNA was also in the news when she took a DNA test in response to political challenges. I wrote about what those results meant scientifically, here. This topic became highly volatile and politicized, with everyone seeming to have a very strongly held opinion. Regardless of where you fall on that opinion spectrum (and no, please do not post political comments as they will not be approved), the topic is likely to surface again in 2019 due to the fact that Elizabeth Warren has just today announced her intention to run for President. The good news is that DNA testing will likely be discussed, sparking curiosity in some people, perhaps encouraging them to test. The bad news is that some of the discussion may be unpleasant at best, and incorrect click-bait at worst. We’ve already had a rather unpleasant sampling of this.

GedMatch, the database used for the GSK case has made it very clear in their terms and conditions that DNA matches may be used for both adoptees seeking their families and for other uses, such as law enforcement seeking matches to DNA sequenced during a criminal investigation. Since April 2018, more than 15 cold case investigations have been solved using the same technique and results at GedMatch. Initially some people removed their DNA from GedMatch, but it appears that the overwhelming sentiment, based on uploads, is that people either aren’t concerned or welcome the opportunity for their DNA matches to assist apprehending criminals.

Currently, GedMatch is the only vendor supporting the use of forensic sample matching. Neither 23anMe nor Ancestry allow uploaded data, and MyHeritage and Family Tree DNA’s terms of service currently preclude this type of use.

MyHeritage

Wow talk about coming onto the DNA world stage with a boom.

MyHeritage went from a somewhat wobbly DNA start about 2 years ago to rolling out a chromosome browser at the end of January and adding important features such as SmartMatching which matches your DNA and your family trees. Add triangulation to this mixture, along with record matching, and you’re got a #1 winning combination.

In November, MyHeritage hosted MyHeritage LIVE, their first user conference in Oslo, Norway which focused on both their genealogical records offerings as well as DNA. This was a resounding success and I hope MyHeritage will continue to sponsor conferences and invest in DNA. You can test your DNA at MyHeritage or upload your results from other vendors (instructions here). You can follow my journey and the conference in Olso here, here, here, here and here.

GDPR

GDPR caused a lot of misery, and I’m glad the implementation is behind us, but the the ripples will be affecting everyone for years to come.

GDPR, the European Data Protection Regulation which went into effect on May 25, 2018 has been a mixed and confusing bag for genetic genealogy. I think the concept of users being in charge and understanding what is happened with their data, and in this case, their data plus their DNA, is absolutely sound. The requirements however, were created without any consideration to this industry – which is small by comparison to the Googles and Facebooks of the world. However, the Googles and Facebooks of the world along with many larger vendors seem to have skated, at least somewhat.

Other companies shut their doors or restricted their offerings in other ways, such as World Families Network and Oxford Ancestors. Vendors such as Ancestry and Family Tree DNA had to make unpopular changes in how their users interface with their software – in essence making genetic genealogy more difficult without any corresponding positive return. The potential fines, 20 million plus Euro for any company holding data for EU residents made it unwise to ignore the mandates.

In the genetic genealogy space, the shuttering of both YSearch and MitoSearch was heartbreaking, because that was the only location where you could actually compare Y STR and mitochondrial HVR1/2 results. Not everyone uploaded their results, and the sites had not been updated in a number of years, but the closure due to GDPR was still a community loss.

Today, mitoydna.org, a nonprofit comprised of genetic genealogists, is making strides in replacing that lost functionality, plus, hopefully more.

On to more positive events.

Family Tree DNA

In April, Family Tree DNA announced a new version of the Big Y test, the Big Y-500 in which at least 389 additional STR markers are included with the Big Y test, for free. If you’re lucky, you’ll receive between 389 and 439 new markers, depending on how many STR markers above 111 have quality reads. All customers are guaranteed a minimum of 500 STR markers in total. Matching was implemented in December.

These additional STR markers allow genealogists to assemble additional line marker mutations to more granularly identify specific male lineages. In other words, maybe I can finally figure out a line marker mutation that will differentiate my ancestor’s line from other sons of my founding ancestor😊

Of course, there are always the national conferences we’re familiar with, but more and more, online conferences are becoming available, as well as some sessions from the more traditional conferences.

I attended Rootstech in Salt Lake City in February (brrrr), which was lots of fun because I got to meet and visit with so many people including Mags Gaulden, above, who is a WikiTree volunteer and writes at Grandma’s Genes, but as a relatively expensive conference to attend, Rootstech was pretty miserable. Rootstech has reportedly made changes and I hope it’s much better for attendees in 2019. My attendance is very doubtful, although I vacillate back and forth.

On the other hand, the MyHeritage LIVE conference was amazing with both livestreamed and recorded sessions which are now available free here along with many others at Legacy Family Tree Webinars.

Family Tree University held a Virtual DNA Conference in June and those sessions, along with others, are available for subscribers to view.

The Virtual Genealogical Association was formed for those who find it difficult or impossible to participate in local associations. They too are focused on education via webinars.

Bottom line, you can sit at home and educate yourself now. Technology is wonderful!

2019 Conferences

In 2019, I’ll be speaking at the National Genealogical Society Family History Conference, Journey of Discovery, in St. Charles, providing the Special Thursday Session titled “DNA: King Arthur’s Mighty Genetic Lightsaber” about how to use DNA to break through brick walls. I’ll also see attendees at Saturday lunch when I’ll be providing a fun session titled “Twists and Turns in the Genetic Road.” This is going to be a great conference with a wonderful lineup of speakers. Hope to see you there.

There may be more speaking engagements at conferences on my 2019 schedule, so stay tuned!

I love this grouping tool. I have already found connections I didn’t know existed previously. I suggest joining the Genetic Affairs User Group on Facebook.

DNAGedcom.com

I wrote an article in January about how to use the DNAGedcom.com client to download the trees of all of your matches and sort to find specific surnames or locations of their ancestors.

However, in December, DNAGedcom.com added another feature with their new DNAGedcom client just released that downloads your match information from all vendors, compiles it and then forms clusters. They have worked with Dana Leeds on this, so it’s a combination of the various methodologies discussed above. I have not worked with the new tool yet, as it has just been released, but Kitty Cooper has and writes about it here. If you are interested in this approach, I would suggest joining the Facebook DNAGedcom User Group.

Rootsfinder

I have not had a chance to work with Rootsfinder beyond the very basics, but Rootsfinder provides genetic network displays for people that you match, as well as triangulated views. Genetic networks visualizations are great ways to discern patterns. The tool creates match or triangulation groups automatically for you.

Training videos are available at the website and you can join the Rootsfinder DNA Tools group at Facebook.

Chips and Imputation

Illumina, the chip maker that provides the DNA chips that most vendors use to test changed from the OmniExpress to the GSA chip during the past year. Older chips have been available, but won’t be forever.

The newer GSA chip is only partially compatible with the OmniExpress chip, providing limited overlap between the older and the new results. This has forced the vendors to use imputation to equalize the playing field between the chips, so to speak.

This has also caused a significant hardship for GedMatch who is now in the position of trying to match reasonably between many different chips that sometimes overlap minimally. GedMatch introduced Genesis as a sandbox beta version previously, but are now in the process of combining regular GedMatch and Genesis into one. Yes, there are problems and matching challenges. Patience is the key word as the various vendors and GedMatch adapt and improve their required migration to imputation.

DNA Central

In June Blaine Bettinger announced DNACentral, an online monthly or yearly subscription site as well as a monthly newsletter that covers news in the genetic genealogy industry.

Many educators in the industry have created seminars for DNACentral. I just finished recording “Getting the Most out of Y DNA” for Blaine.

Even though I work in this industry, I still subscribed – initially to show support for Blaine, thinking I might not get much out of the newsletter. I’m pleased to say that I was wrong. I enjoy the newsletter and will be watching sessions in the Course Library and the Monthly Webinars soon.

If you or someone you know is looking for “how to” videos for each vendor, DNACentral offers “Now What” courses for Ancestry, MyHeritage, 23andMe, Family Tree DNA and Living DNA in addition to topic specific sessions like the X chromosome, for example.

Social Media

2018 has seen a huge jump in social media usage which is both bad and good. The good news is that many new people are engaged. The bad news is that people often given faulty advice and for new people, it’s very difficult (nigh on impossible) to tell who is credible and who isn’t. I created a Help page for just this reason.

You can help with this issue by recommending subscribing to these three blogs, not just reading an article, to newbies or people seeking answers.

Always feel free to post links to my articles on any social media platform. Share, retweet, whatever it takes to get the words out!

The general genetic genealogy social media group I would recommend if I were to select only one would be Genetic Genealogy Tips and Techniques. It’s quite large but well-managed and remains positive.

I’m a member of many additional groups, several of which are vendor or interest specific.

Genetic Snakeoil

Now the bad news. Everyone had noticed the popularity of DNA testing – including shady characters.

Be careful, very VERY careful who you purchase products from and where you upload your DNA data.

If something is free, and you’re not within a well-known community, then YOU ARE THE PRODUCT. If it sounds too good to be true, it probably is. If it sounds shady or questionable, it’s probably that and more, or less.

If reputable people and vendors tell you that no, they really can’t determine your Native American tribe, for example, no other vendor can either. Just yesterday, a cousin sent me a link to a “tribe” in Canada that will, “for $50, we find one of your aboriginal ancestors and the nation stamps it.” On their list of aboriginal people we find one of my ancestors who, based on mitochondrial DNA tests, is clearly NOT aboriginal. Snake oil comes in lots of flavors with snake oil salesmen looking to prey on other people’s desires.

When considering DNA testing or transfers, make sure you fully understand the terms and conditions, where your DNA is going, who is doing what with it, and your recourse. Yes, read every single word of those terms and conditions. For more about legalities, check out Judy Russell’s blog.

Recommended Vendors

All those DNA tests look yummy-good, but in terms of vendors, I heartily recommend staying within the known credible vendors, as follows (in alphabetical order).

Understand that both 23andMe and Ancestry will sell your DNA if you consent and if you consent, you will not know who is using your DNA, where, or for what purposes. Neither Family Tree DNA, GedMatch, MyHeritage, Genographic Project, Insitome, Promethease nor LivingDNA sell your DNA.

There are a few other niche vendors known for specific things within the genetic genealogy community, many of whom are mentioned in this article, but other than known vendors, buyer beware. If you don’t see them listed or discussed on my blog, there’s probably a reason.

What’s Coming in 2019

Just like we couldn’t have foreseen much of what happened in 2018, we don’t have access to a 2019 crystal ball, but it looks like 2019 is taking off like a rocket. We do know about a few things to look for:

MyHeritage is waiting to see if envelope and stamp DNA extractions are successful so that they can be added to their database.

www.totheletterDNA.com is extracting (attempting to) and processing DNA from stamps and envelopes for several people in the community. Hopefully they will be successful.

LivingDNA has been working on matching since before I met with their representative in October of 2017 in Dublin. They are now in Beta testing for a few individuals, but they have also just changed their DNA processing chip – so how that will affect things and how soon they will have matching ready to roll out the door is unknown.

Ancestry did a 2018 ethnicity update, integrating ethnicity more tightly with Genetic Communities, offered genetic traits and made some minor improvements this year, along with adding one questionable feature – showing your matches the location where you live as recorded in your profile. (23andMe subsequently added the same feature.) Ancestry recently said that they are promising exciting new tools for 2019, but somehow I doubt that the chromosome browser that’s been on my Christmas list for years will be forthcoming. Fingers crossed for something new and really useful. In the mean time, we can download our DNA results and upload to MyHeritage, Family Tree DNA and GedMatch for segment matching, as well as utilize Ancestry’s internal matching tools. DNA+tree matching, those green leaf shared ancestor hints, is still their strongest feature.

The Family Tree DNA Conference for Project Administrators will be held March 22-24 in Houston this year, and I’m hopeful that they will have new tools and announcements at that event. I’m looking forward to seeing many old friends in Houston in March.

Here’s what I know for sure about 2019 – it’s going to be an amazing year. We as a community and also as individual genealogists will be making incredible discoveries and moving the ball forward. I can hardly wait to see what quandaries I’ve solved a year from now.

What mysteries do you want to unravel?

I’d like to offer a big thank you to everyone who made 2018 wonderful and a big toast to finding lots of new ancestors and breaking down those brick walls in 2019.

Happy New Year!!!

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Disclosure

I receive a small contribution when you click on the link to one of the vendors in my articles. This does NOT increase the price you pay, but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

The Expo hall opened promptly at 6 this evening and remained open for 2 hours. It was a lightning fast 2 hours, let me tell you!

First, on my way to find a restroom, instead I found a VERY COOL vendor, GeneaCreations.

Bet you can’t guess what she had in her booth!

And this is just the beginning!

There are earrings to match the double helix necklace too!

But, the best is yet to come.

Jeannette, the artist, is holding up my new t-shirt. What you can’t really tell is that the decoration is actually rhinestones. Yea, I’m a Rhinestone Genetic Genealogist!

She carries a couple of other DNA items, including denim shirts for men, and I’m going back tomorrow for those.

And yes, in case you’re wondering, she does accept customer orders.

Meetup

I needed to be back at the Family Tree DNA booth by 6:30 for the meetup with my wonderful blog followers. Thanks so much to all of you who came by to introduce yourselves and say hello.

It’s so nice to talk to other genealogists who are loving genetic genealogy. The gentleman at left has been doing genealogy more than 40 years. The man at right hosts a DNA special interest group.

I’m sorry, I’m really awful with names.

Richard Weiss at left, and Rob Warthen at right, www.dnaadoption.com. I refer people to DNAadoption every single day, for search angels, for education and for tools. It was wonderful to meet these find folks in person, after all these years.

Janet Seegmiller and I met years ago on the Cumberland Gap group. Our ancestors were from some of the same places, and we’ve been on parallel journeys every since. I feel like I’ve known Janet forever! It was so wonderful to actually get to put a face with a name and many, many e-mails.

A group had a Q&A session. We were folks still remaining at closing time, when they dimmed the lights, telling us we’d had enough fun.

Jim Brewster with Family Tree DNA represents my Brewster line. Yes, that’s Brewster as in William Brewster, the Pilgrim who arrived on the Mayflower. I did notice that the Mayflower Association booth is nearby. I think I’ll have to go by and let them know I’ve applied for membership.

I wasn’t able to take photos of everyone who came by, including a cousins I had wanted to meet for years. I apologize to anyone I didn’t get to say hello to personally.

I’ll close this article by showing a really unique guest. Ever wonder what a family tree really looks like?

This tree even came complete with a few birds. I wonder if those would be looney birds! Every tree has them, you know!

You know, I just couldn’t resist the temptation of seeing what would happen if you pulled on one of those shaky leaves.

Conference Pricing

For people AT the conference, pricing for DNA kits as told by vendors so far include:

Family Tree DNA – 2 Family Finder kits for $49, one for $59, but great bundles prices where you can add a Family Finder test to any other new Y or mitochondrial purchase for in essence $39.

The rumor mill tells me that Living DNA is selling kits for $49. They made an announcement yesterday that matching will be released later in the year and that they will be introducing a new feature to create your family tree genetically, without any genealogical input. I must tell you, I have a great deal of skepticism about this, understanding how the technology works and that you can share the exact amount of DNA with a wide variety of people in your tree. I’ll be visiting them today to see if I can obtain more information.

DNAGedcom provides an incredibly cool tool that has helped me immensely with my genealogy research, particularly at Ancestry and Family Tree DNA. This tool doesn’t replace what Ancestry and Family Tree DNA provide, but augments the functionality significantly.

I’ve been frustrated for months by the broken search function at Ancestry, and the DNAGedcom tool allows you to bypass the search function entirely by downloading the direct line ancestral information for all of your matches. So let’s use my Ancestry account as an example.

Utilizing DNAGedcom

After installing the DNAGedcom tool on your system, sign on to your Ancestry account through the tool. The tool downloads all of your matches, the people you match in common with them, and the ancestors in your matches’ trees.

The best part about this is that the results are then in a spreadsheet file that you can simply sort utilizing normal spreadsheet functions. I wrote about using spreadsheets for genetic genealogy in the article, Concepts – Sorting Spreadsheets for Autosomal DNA.

In my case, this means I can see everyone who I match that has an Estes, or any other surname, in their tree. I don’t have to look at my matches’ trees one at a time.

You can read about this very cool tool at this link, including how to subscribe for either $5 per month or $50 per year. Many functions at DNAGedcom are free, but the Ancestry tool is available through a minimal subscription which helps to support the rest of the site.

After subscribing, the DNAGedcom client will become available to you on your subscriber page at DNAGedcom.

Please note that you can click to enlarge any image.

After you subscribe, you’ll see the link for the Ancestry download tool, along with other resources.

You will want to follow the installation directions, exactly, to download the DNAGedcom client onto your PC or Mac in preparation for downloading your Ancestry match information onto your system. This is painless and goes quickly.

Next, you will be prompted to sign in to both DNAGedcom and Ancestry, through the tool, and then you will be prompted for three separate steps at Ancestry:

Gather Matches – took about 10 minutes

Gather Trees – let’s just say you might want to run this one overnight, and on a directly connected system, not wifi. Mine was about 25% complete at the 2 hour mark

Gather ICW – another several hours, but you can do other things on your system at the same time

The downloaded files will be stored on your computer as .csv files. On my PC, the default location was in the Documents directory and the files are named as follows:

a_Roberta_Estes (the ancestors of my matches)

icw_Roberta_Estes (the people I match and who I match in common with them)

m_Roberta_Estes (information about the match, such as cMs, etc.)

It’s important to make a note of this, as I didn’t find the file names documented elsewhere.

The good news is that even though these steps take a long time, having all of this information in a place where you can sort it and use it effectively is extremely useful. You can run the various steps at night or when you aren’t otherwise using your system.

In addition, if someone is sharing their DNA results with you on Ancestry (which they can under the settings gear), you can download the same data for their account – and then you can look for commonalities between groups of results using the DNAGedcom Match-O-Matic tool, also described in the introductory document.

Using the Downloaded Files

Personally, what I wanted to do was to search for all occurrences of a particular surname. Fortunately, it was Claxton or Clarkson, not Smith.

Simply using Excel (after saving the results file in Excel format), I was able to quickly sort for these surnames, an example shown below. Hmmm, I wonder if Claxon is relevant too. I never considered that possibility – nor would I have ever seen Claxon in a surname search, because I wouldn’t have searched for Claxon..

I’m brick walled on the Claxton line in Russell County, Virginia in about 1799. My ancestor, James Lee Claxton, was born someplace in Virginia about 1775. Utilizing Y DNA, we know of another man, also named James Claxton, born about 1750 first found in Granville and Bertie County, NC, who sired an entire lineage of Claxtons who migrated to Bedford County, TN. However, that James is not the father of my ancestor, because that James had a different son named James. Other than these two distinct groups, we can’t seem to match with anyone else who has tested their Y DNA at Family Tree DNA, so my hope, for now, is an autosomal match with a known Claxton line out of Virginia.

(Shameless plug – if you are a Claxton or Clarkson male, please test your Y DNA at Family Tree DNA and join the Claxton DNA project. If you have Claxton or Clarkson ancestry from any line, and have taken the Family Finder test or transferred autosomal results from another vendor, please join the Claxton/Clarkson DNA project at Family Tree DNA. If you have Claxton or Clarkson ancestry and haven’t yet DNA tested, please do.)

Therefore, my goal is to find matches to other Claxton or Clarkson individuals who don’t share a known common known ancestor with me. Because we don’t share a known common ancestor, of course, these people would never be shown as an Ancestry green leaf “DNA+tree match,” nor is there another way for me to obtain a surname list like this at Ancestry.

After finding Claxton candidates, then I can refer to the other downloaded files or sign on to my account at Ancestry to look at the match itself and other ICW matches. Hopefully, some of my matches will also match some of my Claxton cousins as well, which would suggest that the match might actually be through the Claxton line.

The DNAGedcom client also downloads the same type of information from 23andMe, which isn’t nearly as useful without trees, as well as from Family Tree DNA.

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I do not accept sponsorship for this blog, nor do I write paid articles, nor do I accept contributions of any type from any vendor in order to review any product, etc. In fact, I pay a premium price to prevent ads from appearing on this blog.

When reviewing products, in most cases, I pay the same price and order in the same way as any other consumer. If not, I state very clearly in the article any special consideration received. In other words, you are reading my opinions as a long-time consumer and consultant in the genetic genealogy field.

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Every year for the past 17 years has been the year of DNA for me, but for many millions, 2017 has been the year of DNA. DNA testing has become a phenomenon in its own right.

It was in 2013 that Spencer Wells predicted that 2014 would be the “year of infection.” Spencer was right and in 2014 DNA joined the ranks of household words. I saw DNA in ads that year, for the first time, not related to DNA testing or health as in, “It’s in our DNA.”

In 2014, it seemed like most people had heard of DNA, even if they weren’t all testing yet. John Q. Public was becoming comfortable with DNA.

In 2017 – DNA Is Mainstream

If you’re a genealogist, you certainly know about DNA testing, and you’re behind the times if you haven’t tested. DNA testing is now an expected tool for genealogists, and part of a comprehensive proof statement that meets the genealogical proof standard which includes “a reasonably exhaustive search.” If you haven’t applied DNA, you haven’t done a reasonably exhaustive search.

A paper trail is no longer sufficient alone.

When I used to speak to genealogy groups about DNA testing, back in the dark ages, in the early 2000s, and I asked how many had tested, a few would raise their hands – on a good day.

In October, when I asked that same question in Ireland, more than half the room raised their hand – and I hope the other half went right out and purchased DNA test kits!

Consequently, because the rabid genealogical market is now pretty much saturated, the DNA testing companies needed to find a way to attract new customers, and they have.

2017 – The Year of Ethnicity

I’m not positive that the methodology some of the major companies utilized to attract new consumers is ideal, but nonetheless, advertising has attracted many new people to genetic genealogy through ethnicity testing.

If you’re a seasoned genetic genealogist, I know for sure that you’re groaning now, because the questions that are asked by disappointed testers AFTER the results come back and aren’t what people expected find their way to the forums that genetic genealogists peruse daily.

More ethnicity results are available from vendors and third parties alike – just about every place you look it seems. It appears that lots of folks think ethnicity testing is a shortcut to instant genealogy. Spit, mail, wait and voila – but there is no shortcut. Since most people don’t realize that until after they test, ethnicity testing is becoming ever more popular with more vendors emerging.

In the spring, LivingDNA began delivering ethnicity results and a few months later, MyHeritage as well. Ethnicity is hot and companies are seizing a revenue opportunity.

Now, the good news is that perhaps some of these new ethnicity testers can be converted into genealogists. We just have to view ethnicity testing as tempting bait, or hopefully, a gateway drug…

2017 – The Year of Explosive Growth

DNA testing has become that snowball rolling downhill that morphed into an avalanche. More people are seeing commercials, more people are testing, and people are talking to friends and co-workers at the water cooler who decide to test. I passed a table of diners in Germany in July to overhear, in English, discussion about ethnicity-focused DNA testing.

If you haven’t heard of DTC, direct to consumer, DNA testing, you’re living under a rock or maybe in a third world country without either internet or TV.

Most of the genetic genealogy companies are fairly closed-lipped about their data base size of DNA testers, but Ancestry isn’t. They have gone from about 2 million near the end of 2016 to 5 million in August 2017 to at least 7 million now. They haven’t said for sure, but extrapolating from what they have said, I feel safe with 7 million as a LOW estimate and possibly as many as 10 million following the holiday sales.

Advertising obviously pays off.

MyHeritage recently announced that their data base has reached 1 million, with only about 20% of those being transfers.

Based on the industry rumble, I suspect that the other DNA testing companies have had banner years as well.

The good news is that all of these new testers means that anyone who has tested at any of the major vendors is going to get lots of matches soon. Santa, it seems, has heard about DNA testing too and test kits fit into stockings!

That’s even better news for all of us who are in multiple data bases – and even more reason to test at all of the 4 major companies who provide DNA matching for their customers: Family Tree DNA, Ancestry, MyHeritage and 23andMe.

2017 – The Year of Vendor and Industry Churn

So much happened in 2017, it’s difficult to keep up.

MyHeritage entered the DNA testing arena and began matching in September of 2016. Frankly, they had a mess, but they have been working in 2017 to improve the situation. Let’s just say they still have some work to do, but at least they acknowledge that and are making progress.

MyHeritage has a rather extensive user base in Europe. Because of their European draw, their records collections and the ability to transfer results into their data base, they have become the 4th vendor in a field that used to be 3.

In March 2017, Family Tree DNA announced that they were accepting transfers of both the Ancestry V2 test, in place since May of 2016, along with the 23andMe V4 test, available since November 2013, for free. MyHeritage has since been added to that list. The Family Tree DNA announcement provided testers with another avenue for matching and advanced tools.

Illumina obsoleted their OmniExpress chip, forcing vendors to Illumina’s new GSA chip which also forces vendors to use imputation. I swear, imputation is a swear word. Illumina gets the lump of coal award for 2017.

I wrote about imputation here, but in a nutshell, the vendors are now being forced to test only about 20% of the DNA locations available on the previous Illumina chip, and impute or infer using statistics the values in the rest of the DNA locations that they previously could test.

Early imputation implementers include LivingDNA (ethnicity only), MyHeritage (to equalize the locations of various vendor’s different chips), DNA.Land (whose matching is far from ideal) and 23andMe, who seems, for the most part, to have done a reasonable job. Of course, the only way to tell for sure at 23andMe is to test again on the V5 chip and compare to V3 and V4 chip matches. Given that I’ve already paid 3 times to test myself at 23andMe (V2, 3 and 4), I’m not keen on paying a 4th time for the V5 version.

23andMe moved to the V5 Illumina GSA chip in August which is not compatible with any earlier chip versions.

Needless to say, the Illumina chip change has forced vendors away from focusing on new products in order to develop imputation code in order to remain backwards compatible with their own products from an earlier chip set.

GedMatch introduced their sandbox area, Genesis, where people can upload files that are not compatible with the traditional vendor files. This includes the GSA chip results (23andMe V5,) exome tests and others. The purpose of the sandbox is so that GedMatch can figure out how to work with these files that aren’t compatible with the typical autosomal test files. The process has been interesting and enlightening, but people either don’t understand or forget that it’s a sandbox, an experiment, for all involved – including GedMatch. Welcome to living on the genetic frontier!

I assembled a chart of who loves who – meaning which vendors accept transfers from which other vendors.

I suspect but don’t know that Ancestry is doing some form of imputation between their V1 and V2 chips. About a month before their new chip implementation in May of 2016, Ancestry made a change in their matching routine that resulting in a significant shift in people’s matches.

Because of Ancestry’s use of the Timber algorithm to downweight some segments and strip out others altogether, it’s difficult to understand where matching issues may arise. Furthermore, there is no way to know that there are matching issues unless you and another individual have transferred results to either Family Tree DNA or GedMatch, neither of which remove any matching segments.

Other developments of note include the fact that Family Tree DNA moved to mitochondrial DNA build V17 and updated their Y DNA to hg38 of the human reference genome – both huge undertakings requiring the reprocessing of customer data. Think of both of those updates as housekeeping. No one wants to do it, but it’s necessary.

23andMe FINALLY finished transferring their customer base to the “New Experience,” but many of the older features we liked are now gone. However, customers can now opt in to open matching, which is a definite improvement. 23andMe, having been the first company to enter the genetic genealogy autosomal matching marketspace has really become lackluster. They could have owned this space but chose not to focus on genealogy tools. In my opinion, they are now relegated to fourth place out of a field of 4.

Ancestry has updated their Genetic Communities feature a couple of times this year. Genetic Communities is interesting and more helpful than ethnicity estimates, but neither are nearly as helpful as a chromosome browser would be.

I’m sure that the repeated requests, begging and community level tantrum throwing in an attempt to convince Ancestry to produce a chromosome browser is beyond beating a dead horse now. That dead horse is now skeletal, and no sign of a chromosome browser. Sigh:(

The good news is that anyone who wants a chromosome browser can transfer their results to Family Tree DNA or GedMatch (both for free) and utilize a chromosome browser and other tools at either or both of those locations. Family Tree DNA charges a one time $19 fee to access their advanced tools and GedMatch offers a monthly $10 subscription. Both are absolutely worth every dime. The bad news is, of course, that you have to convince your match or matches to transfer as well.

If you can convince your matches to transfer to (or test at) Family Tree DNA, their tools include phased Family Matching which utilizes a combination of user trees, the DNA of the tester combined with the DNA of family matches to indicate to the user which side, maternal or paternal (or both), a particular match stems from.

Sites to keep your eye on include Jonny Perl’s tools which include DNAPainter, as well as Goran Rundfeldt’s DNA Genealogy Experiment. You may recall that in October Goran brought us the fantastic Triangulator tool to use with Family Tree DNA results. A few community members expressed concern about triangulation relative to privacy, so the tool has been (I hope only temporarily) disabled as the involved parties work through the details. We need Goran’s triangulation tool! Goran has developed other world class tools as well, as you can see from his website, and I hope we see more of both Goran and Jonny in 2018.

In 2017, a number of new “free” sites that encourage you to upload your DNA have sprung up. My advice – remember, there really is no such thing as a free lunch. Ask yourself why, what’s in it for them. Review ALL OF THE documents and fine print relative to safety, privacy and what is going to be done with your DNA. Think about what recourse you might or might not have. Why would you trust them?

My rule of thumb, if the company is outside of the US, I’m immediately slightly hesitant because they don’t fall under US laws. If they are outside of Europe or Canada, I’m even more hesitant. If the company is associated with a country that is unfriendly to the US, I unequivocally refuse. For example, riddle me this – what happens if a Chinese (or fill-in-the-blank country) company violates an agreement regarding your DNA and privacy? What, exactly, are you going to do about it from wherever you live?

2017 – The Year of Marketplace Apps

Third party genetics apps are emerging and are beginning to make an impact.

GedMatch, as always, has continued to quietly add to their offerings for genetic genealogists, as had DNAGedcom.com. While these two aren’t exactly an “app”, per se, they are certainly primary players in the third party space. I use both and will be publishing an article early in 2018 about a very useful tool at DNAGedcom.

Another application that I don’t use due to the complex setup (which I’ve now tried twice and abandoned) is Genome Mate Pro which coordinates your autosomal results from multiple vendors. Some people love this program. I’ll try, again, in 2018 and see if I can make it all the way through the setup process.

The real news here are the new marketplace apps based on Exome testing.

Helix and their partners offer a number of apps that may be of interest for consumers. Helix began offering a “test once, buy often” marketplace model where the consumer pays a nominal price for exome sequencing ($80), significantly under market pricing ($500), but then the consumer purchases DNA apps through the Helix store. The apps access the original DNA test to produce results. The consumer does NOT receive their downloadable raw data, only data through the apps, which is a departure from the expected norm. Then again, the consumer pays a drastically reduced price and downloadable exome results are available elsewhere for full price.

The Helix concept is that lots of apps will be developed, meaning that you, the consumer, will be interested and purchase often – allowing Helix to recoup their sequencing investment over time.

Aside from the Insitome apps, I think that the personalized clothes are cute, if extremely overpriced. But what the heck, they’re fun and raise awareness of DNA testing – a good thing! After all, who am I to talk, I’ve made DNA quilts and have DNA clothing too.

Having said that, I’m extremely skeptical about some of the other apps, like “Wine Explorer.” Seriously???

But then again, if you named an app “I Have More Money Than Brains,” it probably wouldn’t sell well.

Other apps, like Ancestry’s WeRelate (available for smartphones) is entertaining, but is also unfortunately EXTREMELY misleading. WeRelate conflates multiple trees, generally incorrectly, to suggest to you and another person on your Facebook friends list are related, or that you are related to famous people. Judy Russell reviews that app here in the article, “No, actually, we’re not related.” No. Just no!

I feel strongly that companies that utilize our genetic data for anything have a moral responsibility for accuracy, and the WeRelate app clearly does NOT make the grade, and Ancestry knows that. I really don’t believe that entertaining customers with half-truths (or less) is more important than accuracy – but then again, here I go just being an old-fashioned fuddy dud expecting ethics.

And then, there’s the snake oil. You knew it was going to happen because there is always someone who can be convinced to purchase just about anything. Think midnight infomercials. The problem is that many consumers really don’t know how to tell snake oil from the rest in the emerging DNA field.

You can now purchase DNA testing for almost anything. Dating, diet, exercise, your taste in wine and of course, vitamins and supplements. If you can think of an opportunity, someone will dream up a test.

How many of these are legitimate or valid? Your guess is as good as mine, but I’m exceedingly suspicious of a great many, especially those where I can find no legitimate scientific studies to back what appear to be rather outrageous claims.

My main concern is that the entire DTC testing industry will be tarred by the brush of a few unethical opportunists.

2017 – The Year of Focus on Privacy and Security

With increased consumer exposure comes increased notoriety. People are taking notice of DNA testing and it seems that everyone has an opinion, informed or not. There’s an old saying in marketing; “Talk about me good, talk about me bad, just talk about me.”

With all of the ads have come a commensurate amount of teeth gnashing and “the-sky-is-falling” type reporting. Unfortunately, many politicians don’t understand this industry and open mouth only to insert foot – except that most people don’t realize what they’ve done. I doubt that the politicians even understand that they are tasting toe-jam, because they haven’t taken the time to research and understand the industry. Sound bites and science don’t mix well.

The bad news is that next, the click-bait-focused press picks up on the stories and the next time you see anyone at lunch, they’re asking you if what they heard is true. Or, let’s hope that they ask you instead of just accepting what they heard as gospel. Hopefully if we’ve learned anything in this past year, it’s to verify, verify, verify.

I’ve been an advocate for a very long time of increased transparency from the testing companies as to what is actually done with our DNA, and under what circumstances. In other words, I want to know where my DNA is and what it’s being used for. Period.

Bennett Greenspan: “We could probably make a lot of money by selling the DNA data that we’ve been collecting over the years, but we feel that the only person that should have your DNA information is you. We don’t believe that it should be sold, traded or bartered.”

You can’t get more definitive than that.

DTC testing for genetic genealogy must be a self-regulating field, because the last thing we need is for the government to get involved, attempting to regulate something they don’t understand. I truly believe government interference by the name of regulation would spell the end of genetic genealogy as we know it today. DNA testing for genetic genealogy without sharing results is entirely pointless.

I’ve written about this topic in the past, but an update is warranted and I’ll be doing that sometime after the first of the year. Mostly, I just need to be able to stay awake while slogging through the required reading (at some vendor sites) of page after page AFTER PAGE of legalese😊

Consumers really shouldn’t have to do that, and if they do, a short, concise summary should be presented to them BEFORE they purchase so that they can make a truly informed decision.

Stay tuned on this one.

2017 – The Year of Education

The fantastic news is that with all of the new people testing, a huge, HUGE need for education exists. Even if 75% of the people who test don’t do anything with their results after that first peek, that still leaves a few million who are new to this field, want to engage and need some level of education.

In that vein, seminars are available through several groups and institutes, in person and online. Almost all of the leadership in this industry is involved in some educational capacity.

In addition to agendas focused on genetic genealogy and utilizing DNA personally, almost every genealogy conference now includes a significant number of sessions on DNA methods and tools. I remember the days when we were lucky to be allowed one session on the agenda, and then generally not without begging!

When considering both DNA testing and education, one needs to think about the goal. All customer goals are not the same, and neither are the approaches necessary to answer their questions in a relevant way.

New testers to the field fall into three primary groups today, and their educational needs are really quite different, because their goals, tools and approaches needed to reach those goals are different too.

Adoptees and genealogists employ two vastly different approaches utilizing a common tool, DNA, but for almost opposite purposes. Adoptees wish to utilize tests and trees to come forward in time to identify either currently living or recently living people while genealogists are interested in reaching backward in time to confirm or identify long dead ancestors. Those are really very different goals.

I’ve illustrated this in the graphic above. The tester in question uses their blue first cousin match to identify their unknown parent through the blue match’s known lineage, moving forward in time to identify the tester’s parent. In this case, the grandparent is known to the blue match, but not to the yellow tester. Identifying the grandparent through the blue match is the needed lynchpin clue to identify the unknown parent.

The yellow tester who already knows their maternal parent utilizes their peach second cousin match to verify or maybe identify their maternal great-grandmother who is already known to the peach match, moving backwards in time. Two different goals, same DNA test.

The three types of testers are:

Curious ethnicity testers who may not even realize that at least some of the vendors offer matching and other tools and services.

Genealogists who use close relatives to prove which sides of trees matches come from, and to triangulate matching segments to specific ancestors. In other words, working from the present back in time. The peach match and line above.

Adoptees and parent searches where testers hope to find a parent or siblings, but failing that, close relatives whose trees overlap with each other – pointing to a descendant as a candidate for a parent. These people work forward in time and aren’t interested in triangulation or proving ancestors and really don’t care about any of those types of tools, at least not until they identify their parent. This is the blue match above.

What these various groups of testers want and need, and therefore their priorities are different in terms of their recommendations and comments in online forums and their input to vendors. Therefore, you find Facebook groups dedicated to Adoptees, for example, but you also find adoptees in more general genetic genealogy groups where genealogists are sometimes surprised when people focused on parent searches downplay or dismiss tools such as Y DNA, mitochondrial DNA and chromosome browsers that form the bedrock foundation of what genealogists need and require.

Fortunately, there’s room for everyone in this emerging field.

The great news is that educational opportunities are abundant now. I’m listing a few of the educational opportunities for all three groups of testers, in addition to my blog of course.😊

Remember that this blog is fully searchable by keyword or phrase in the little search box in the upper right hand corner. I see so many questions online that I’ve already answered!

About midyear 2018, this blog will reach 1000 published articles. This is article number 939. That’s amazing even to me! When I created this blog in July of 2012, I wasn’t sure I’d have enough to write about. That certainly has changed.

Beginning shortly, the tsunami of kits that were purchased during the holidays will begin producing matches, be it through DNA upgrades at Family Tree DNA, Big Y tests which were hot at year end, or new purchases through any of the vendors. I can hardly wait, and I have my list of brick walls that need to fall.

Family Tree DNA will be providing additional STR markers extracted from the Big Y test. These won’t replace any of the 111 markers offered separately today, because the extraction through NGS testing is not as reliable as direct STR testing for those markers, but the Big Y will offer genealogists a few hundred more STRs to utilize. Yes, I said a few hundred. The exact number has not yet been finalized.

Family Tree DNA says they will also be introducing new “qualify of life improvements” along with new privacy and consent settings. Let’s hope this means new features and tools will be released too.

MyHeritage says that they are introducing new “Discoveries” pages and a chromosome browser in January. They have also indicated that they are working on their matching issues. The chromosome browser is particularly good news, but matching must work accurately or the chromosome browser will show erroneous information. Let’s hope January brings all three features.

LivingDNA indicates that they will be introducing matching in 2018.

2018 – What Can You Do?

What can you do in 2018 to improve your odds of solving genealogy questions?

Test relatives

Transfer your results to as many data bases as possible (among the ones discussed above, after reading the terms and conditions, of course)

If you have transferred a version of your DNA that does not produce full results, such as the Ancestry V2 or 23andMe V4 test to Family Tree DNA, consider testing on the vendor’s own chip in order to obtain all matches, not just the closest matches available from an incompatible test transfer.

Find ways to share the stories of your ancestors. Stories are cousin bait. My 52 Ancestors series is living proof. People find the stories and often have additional facts, information or even photos. Some contacts qualify for DNA testing for Y or mtDNA lines. The GREAT NEWS is that Amy Johnson Crow is resuming the #52Ancestors project for 2018, providing hints and tips each week! Who knows what you might discover by sharing?! Here’s how to start a blog if you need some assistance. It’s easy – really!

Focus on the brick walls that you want to crumble and then put together both a test and analysis plan. That plan could include such things as:

o Find out if a male representing a Y line in your tree has tested, and if not, search through autosomal results to see if a male from that paternal surname line has tested and would be amenable to an upgrade.

o Mitochondrial DNA test people who descend through all females from various female ancestors in order to determine their origins. Y and mtDNA tests are an important part of a complete genealogy story – meaning the reasonably exhaustive search!

o Autosomal DNA test family members from various lines with the hope that matches will match you and them both.

o Test family members in order to confirm a particular ancestor – preferably people who descend from another child of that ancestor.

o Making sure your own DNA is in all 4 of the major vendors’ data bases, plus GedMatch. Look at it this way, everyone who is at GedMatch or at a third party (non-testing) site had to have tested at one of the major 4 vendors – so if you are in all of the vendor’s data bases, plus GedMatch, you’re covered.

Have a wonderful New Year and let’s make 2018 the year of newly discovered ancestors and solved mysteries!

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In past years, I’ve written a “best of” article about genetic genealogy happenings throughout the year. For several years, the genetic genealogy industry was relatively new, and there were lots of new tools being announced by the testing vendors and others as well.

This year is a bit different. I’ve noticed a leveling off – there have been very few announcements of new tools by vendors, with only a few exceptions. I think genetic genealogy is maturing and has perhaps begun a new chapter. Let’s take a look.

They are the first and remain the only vendor to offer this kind of feature.

Phased Family Matching is extremely useful in terms of identifying which side of your family tree your matches are from. This tool, in addition to Family Tree DNA’s nine other autosomal tools helps identify common ancestors by showing you who is related to whom.

Family Tree DNA has also added other features such as a revamped tree with the ability to connect DNA results to family members. DNA results connected to the tree is the foundation for the new Phased Family Matching.

The new Ancient Origins feature, released in November, was developed collaboratively with Dr. Michael Hammer at the University of Arizona Hammer Lab.

Ancient European Origins is based on the full genome sequencing work now being performed in the academic realm on ancient remains. These European results fall into three primary groups of categories based on age and culture. Customer’s DNA is compared to the ancient remains to determine how much of the customer’s European DNA came from which group. This exciting new feature allows us to understand more about our ancestors, long before the advent of surnames and paper or parchment records. Ancient DNA is redefining what we know, or thought we knew, about population migration.

You can view Dr. Hammer’s presentation given at the Family Tree DNA Conference in conjunction with the announcement of the new Ancient Origins feature here.

Family Tree DNA maintains its leadership position among the three primary vendors relative to Y DNA testing, mtDNA testing and autosomal tools.

Ancestry

In May of 2016, Ancestry changed the chip utilized by their tests, removing about 300,000 of their previous 682,000 SNPs and replacing them with medically optimized SNPs. The rather immediate effect was that due to the chip incompatibility, Ancestry V2 test files created on the new chip cannot be uploaded to Family Tree DNA, but they can be uploaded to GedMatch. Family Tree DNA is working on a resolution to this problem.

Ancestry does have the largest autosomal data base but many people tested only for ethnicity, don’t have trees or have private trees. In my case, about half of my matches fall into that category.

Ancestry maintains its leadership position relative to DNA tree matching, known as a Shared Ancestor Hint, identifying common ancestors in the trees of people whose DNA matches.

23andMe

23andMe struggled for most of the year to meet a November 2015 deadline, which is now more than a year past, to transition its customers to the 23andMe “New Experience” which includes a new customer interface. I was finally transitioned in September 2016, and the experience has been very frustrating and extremely disappointing, and that’s putting it mildly. Some customers, specifically international customers, are still not transitioned, nor is it clear if or when they will be.

I tested on the 23andMe older V3 chip as well as their newer V4 chip. After my transition to the New Experience, I compared the results of the two tests. The new security rules incorporated into the New Experience meant that I was only able to view about 25% of my matches (400 of 1651(V3) matches or 1700 (V4) matches). 23andMe has, in essence, relegated themselves into the non-player status for genetic genealogy, except perhaps for adoptees who need to swim in every pool – but only then as a last place candidate. And those adoptees had better pray that if they have a close match, that match falls into the 25% of their matches that are useful.

In December, 23andMe began providing segment information for ethnicity segments, except the parental phasing portion does not function accurately, calling into question the overall accuracy of the 23andme ethnicity information. Ironically, up until now, while 23andMe slipped in every other area, they had been viewed at the best, meaning most accurate, in terms of ethnicity estimates.

New Kids on the Block

MyHeritage

In May of 2016, MyHeritage began encouraging people who have tested at other vendors to upload their results. I was initially very hesitant, because aside from GedMatch that has a plethora of genetic genealogy tools, I have seen no benefit to the participant to upload their DNA anyplace, other than Family Tree DNA (available for V3 23andMe and V1 Ancestry only).

Any serious genealogist is going to test at least at Family Tree DNA and Ancestry, both, and upload to GedMatch. My Heritage was “just another upload site” with no tools, not even matching initially.

However, in September, MyHeritage implemented matching, although they have had a series of what I hope are “startup issues,” with numerous invalid matches, apparently resulting from their usage of imputation.

Imputation is when a vendor infers what they think your DNA will look like in regions where other vendors test, and your vendor doesn’t. The best example would be the 300,000 or so Ancestry locations that are unique to the Ancestry V2 chip. Imputation would result in a vendor “inferring” or imputing your results for these 300,000 locations based on…well, we don’t exactly know based on what. But we do know it cannot be accurate. It’s not your DNA.

In the midst of this, in October, 23andMe announced on their forum that they had severed a previous business relationship with MyHeritage where 23andMe allowed customers to link to MyHeritage trees in lieu of having customer trees directly on the 23andMe site. This approach had been problematic because customers are only allowed 250 individuals in their tree for free, and anything above that requires a MyHeritage subscription. Currently 23andMe has no tree capability.

It appears that MyHeritage refined their DNA matching routines at least somewhat, because many of the bogus matches were gone in November when they announced that their beta was complete and that they were going to sell their own autosomal DNA tests. However, matching issues have not disappeared or been entirely resolved.

While Family Tree DNA’s lab will be processing the MyHeritage autosomal tests, the results will NOT be automatically placed in the Family Tree DNA data base.

MyHeritage will be doing their own matching within their own database. There are no comparison tools, tree matching or ethnicity estimates today, but My Heritage says they will develop a chromosome browser and ethnicity estimates. However, it is NOT clear whether these will be available for free to individuals who have transferred their results into MyHeritage or if they will only be available to people who tested through MyHeritage.

For the record, I have 28 matches today at MyHeritage.

I found that my second closest match at MyHeritage is also at Ancestry.

At MyHeritage, they report that I match this individual on a total of 64.1 cM, across 7 segments, with the largest segment being 14.9 cM.

Ancestry reports this same match at 8.3 cM total across 1 segment, which of course means that the longest segment is also 8.3 cM.

Ancestry estimates the relationship as 5th to 8th cousin, and MyHeritage estimates it as 2nd to 4th.

While I think Ancestry’s Timber strips out too much DNA, there is clearly a HUGE difference in the reported results and the majority of this issue likely lies with the MyHeritage DNA imputation and matching routines.

I uploaded my Family Tree DNA autosomal file to MyHeritage, so MyHeritage is imputing at least 300,000 SNPs for me – almost half of the SNPs needed to match to Ancestry files. They are probably imputing that many for my match’s file too, so that we have an equal number of SNPs for comparison. Combined, this would mean that my match and I are comparing 382,000 actual SNPs that we both tested, and roughly 600,000 SNPs that we did not test and were imputed. No wonder the MyHeritage numbers are so “off.”

My Heritage has a long way to go before they are a real player in this arena. However, My Heritage has potential, as they have a large subscriber base in Europe, where we desperately need additional testers – so I’m hopeful that they can attract additional genealogists that are willing to test from areas that are under-represented to date.

My Heritage got off to a bit of a rocky start by requiring users to relinquish the rights to their DNA, but then changed their terms in May, according to Judy Russell’s blog.

All vendors can change their terms at any time, in a positive or negative direction, so I would strongly encourage all individuals considering utilizing any testing company or upload service to closely read all the legal language, including Terms and Conditions and any links found in the Terms and Conditions.

Please note that MyHeritage is a subscription genealogy site, similar to Ancestry. MyHeritage also owns Geni.com. One site, MyHeritage, allows individual trees and the other, Geni, embraces the “one world tree” model. For a comparison of the two, check out Judy Russell’s articles, here and here. Geni has also embraced DNA by allowing uploads from Family Tree DNA of Y, mitochondrial and autosomal, but the benefits and possible benefits are much less clear.

If the MyHeritage story sounds like a confusing soap opera, it is. Let’s hope that 2017 brings both clarity and improvements.

They have had my kit for several weeks now, and testing has yet to begin. I’ll write about the results when I receive them. So far, I don’t know of anyone who has received results.

Genos

I debated whether or not I should include Genos, because they are not a test for genealogy and are medically focused. However, I am including them because they have launched a new model for genetic testing wherein your full exome is tested, you receive the results along with information on the SNPs where mutations are found. You can then choose to be involved with research programs in the future, if you wish, or not.

I love Kitty’s Ancestor Chromosome Mapper which maps the segments identified with your ancestors on your chromosomes. I just love seeing which ancestors’ DNA I carry on which chromosomes. Somehow, this makes me feel closer to them. They’re not really gone, because they still exist in me and other descendants as well.

In order to use Kitty’s tool, you’ll have to have mapped at least some of your autosomal DNA to ancestors.

The Autosomal DNA Segment Analyzer written by Don Worth and available at DNAGedcom is still one of my favorite tools for quick, visual and easy to understand segment matching results.

GedMatch has offered a triangulation tool for some time now, but recently introduced a new Triangulation Groups tool.

I have not utilized this tool extensively but it looks very interesting. Unfortunately, there is no explanation or help function available for what this tool is displaying or how to understand and interpret the results. Hopefully, that will be added soon, as I think it would be possible to misinterpret the output without educational material.

GedMatch also introduced their “Evil Twin” tool, which made me laugh when I saw the name. Using parental phasing, you can phase your DNA to your parent or parents at GedMatch, creating kits that only have your mother’s half of your DNA, or your father’s half. These phased kits allow you to see your matches that come from that parent, only. However, the “Evil Twin” feature creates a kit made up of the DNA that you DIDN’T receive from that parent – so in essence it’s your other half, your evil twin – you know, that person who got blamed for everything you “didn’t do.” In any case, this allows you to see the matches to the other half of your parent’s DNA that do not show up as your matches.

Truthfully, the Evil Twin tool is interesting, but since you have to have that parent’s DNA to phase against in the first place, it’s just as easy to look at your parent’s matches – at least for me.

Others offer unique tools that are a bit different.

DNAadoption.com offers tools, search and research techniques, especially for adoptees and those looking to identify a parent or grandparents, but perhaps even more important, they offer genetic genealogy classes including basic and introductory.

I send all adoptees in their direction, but I encourage everyone to utilize their classes.

WikiTree has continued to develop and enhance their DNA offerings. While WikiTree is not a testing service nor do they offer autosomal data tools like Family Tree DNA and GedMatch, they do allow individuals to discover whether anyone in their ancestral line has tested their Y, mitochondrial or autosomal DNA.

Specifically, you can identify the haplogroup of any male or female ancestor if another individual from that direct lineage has tested and provided that information for that ancestor on WikiTree. While I am generally not a fan of the “one world tree” types of implementations, I am a fan of WikiTree because of their far-sighted DNA comparisons, the fact that they actively engage their customers, they listen and they expend a significant amount of effort making sure they “get it right,” relative to DNA. Check out WikiTree’s article, Putting DNA Results Into Action, for how to utilize their DNA Features.

Thanks particularly to Chris Whitten at WikiTree and Peter Roberts for their tireless efforts. WikiTree is the only vendor to offer the ability to discover the Y and mtDNA haplogroups of ancestors by searching trees.

All of the people creating the tools mentioned above, to the best of my knowledge, are primarily volunteers, although GedMatch does charge a small subscription service for their high end tools, including the triangulation and evil twin tools. DNAGedcom does as well. Wikitree generates some revenue for the site through ads on pages of non-members. DNAAdoption charges nominally for classes but they do have need-based scholarships. Kitty has a donation link on her website and all of these folks would gladly accept donations, I’m sure. Websites and everything that goes along with them aren’t free. Donations are a nice way to say thank you.

What Defined 2016

I have noticed two trends in the genetic genealogy industry in 2016, and they are intertwined – ethnicity and education.

First, there is an avalanche of new testers, many of whom are not genetic genealogists.

Why would one test if they weren’t a genetic genealogist?

The answer is simple…

Ethnicity.

Or more specifically, the targeted marketing of ethnicity. Ethnicity testing looks like an easy, quick answer to a basic human question, and it sells kits.

Ethnicity

“Kim just wanted to know who she was.”

I have to tell you, these commercials absolutely make me CRINGE.

Yes, they do bring additional testers into the community, BUT carrying significantly misset expectations. If you’re wondering about WHY I would suggest that ethnicity results really cannot tell you “who you are,” check out this article about ethnicity estimates.

And yes, that’s what they are, estimates – very interesting estimates, but estimates just the same. Estimates that provide important and valid hints and clues, but not definitive answers.

ESTIMATES.

Nothing more.

Estimates based on proprietary vendor algorithms that tend to be fairly accurate at the continental level, and not so much within continents – in particular, not terribly accurate within Europe. Not all of this can be laid a the vendor’s feet. For example, DNA testing is illegal in France. Not to mention, genetic genealogy and population genetics is still a new and emerging field. We’re on the frontier, folks.

The ethnicity results one receives from the 3 major vendors (Ancestry, Family Tree DNA and 23andMe) and the various tools at GedMatch don’t and won’t agree – because they use different reference populations, different matching routines, etc. Not to mention people and populations move around and have moved around.

The next thing that happens, after these people receive their results, is that we find them on the Facebook groups asking questions like, “Why doesn’t my full blooded Native American grandmother show up?” and “I just got my Ancestry results back. What do I do?” They mean that question quite literally.

I’m not making fun of these people, or light of the situation. Their level of frustration and confusion is evident. I feel sorry for them…but the genetic genealogy community and the rest of us are left with applying ointment and Band-Aids. Truthfully, we’re out-numbered.

Because of the expectations, people who test today don’t realize that genetic testing is a TOOL, it’s not an ANSWER. It’s only part of the story. Oh, and did I mention, ethnicity is only an ESTIMATE!!!

But an estimate isn’t what these folks are expecting. They are expecting “the answer,” their own personal answer, which is very, very unfortunate, because eventually they are either unhappy or blissfully unaware.

Many become unhappy because they perceive the results to be in error without understanding anything about the technology or what information can reasonably be delivered, or they swallow “the answer” lock stock and barrel, again, without understanding anything about the technology.

Ethnicity is fun, it isn’t “bad” but the results need to be evaluated in context with other information, such as Y and mitochondrial haplogroups, genealogical records and ethnicity results from the other major testing companies.

Fortunately, we can recruit some of the ethnicity testers to become genealogists, but that requires education and encouragement. Let’s hope that those DNA ethnicity results light the fires of curiosity and that we can fan those flames!

Education

The genetic genealogy community desperately needs educational resources, in part as a result of the avalanche of new testers – approximately 1 million a year, and that estimate may be low. Thankfully, we do have several education options – but we can always use more. Unfortunately, the learning curve is rather steep.

My blog offers just shy of 800 articles, all key word searchable, but one has to first find the blog and want to search and learn, as opposed to being handed “the answer.”

In order to address the need for basic understanding of autosomal DNA principles, tools and how to utilize them, I began the “Concepts” series in February 2016. To date I offer the following 15 articles about genetic genealogy concepts. To be clear, DNA testing is only the genetic part of genetic genealogy, the genealogical research part being the second half of the equation.

The good news and bad news is that I’m constantly seeing a genetic genealogy seminar, webinar or symposium hosted by a group someplace that is online, and often free. When I see names I recognize as being reputable, I am delighted that there is so much available to people who want to learn.

And for the record, I think that includes everyone. Even professional genetic genealogists watch these sessions, because you just never know what wonderful tidbit you’re going to pick up. Learning, in this fast moving field, is an everyday event.

The bad news is that I can’t keep track of everything available, so I don’t mean to slight any resource. Please feel free to post additional resources in the comments.

You would be hard pressed to find any genealogy conference, anyplace, today that didn’t include at least a few sessions about genetic genealogy. However, genetic genealogy has come of age and has its own dedicated conferences.

Dr. Maurice Gleeson, the gentleman who coordinates Genetic Genealogy Ireland films the sessions at the conference and then makes them available, for free, on YouTube. This link provides a list of the various sessions from 2016 and past years as well. Well worth your time! A big thank you to Maurice!!!

The 19 video series from the I4GG Conference this fall is now available for $99. This series is an excellent opportunity for genetic genealogy education.

As always, I encourage project administrators to attend the Family Tree DNA International Conference on Genetic Genealogy. The sessions are not filmed, but the slides are made available after the conference, courtesy of the presenters and Family Tree DNA. You can view the presentations from 2015 and 2016 at this link.

Jennifer Zinck attended the conference and published her excellent notes here and here, if you want to read what she had to say about the sessions she attended. Thankfully, she can type much faster and more accurately than I can! Thank you so much Jennifer.

If you’d like to read about the unique lifetime achievement awards presented at the conference this year to Bennett Greenspan and Max Blankfeld, the founders of Family Tree DNA, click here. They were quite surprised! This article also documents the history of genetic genealogy from the beginning – a walk down memory lane.

The 13th annual Family Tree DNA conference which will be held November 10-12, 2017 at the Hyatt Regency North Houston. Registration is always limited due to facility size, so mark your calendars now, watch for the announcement and be sure to register in time.

Summary

2016 has been an extremely busy year. I think my blog has had more views, more comments and by far, more questions, than ever before.

I’ve noticed that the membership in the ISOGG Facebook group, dedicated to genetic genealogy, has increased by about 50% in the past year, from roughly 8,000 members to just under 12,000. Other social media groups have been formed as well, some focused on specific aspects of genetic genealogy, such as specific surnames, adoption search, Native American or African American heritage and research.

The genetic aspect of genealogy has become “normal” today, with most genealogists not only accepting DNA testing, but embracing the various tools and what they can do for us in terms of understanding our ancestors, tracking them, and verifying that they are indeed who we think they are.

I may have to explain the three basic kinds of DNA testing and how they are used today, but no longer do I have to explain THAT DNA testing for genealogy exists and that it’s legitimate.

I hope that each of us can become an ambassador for genetic genealogy, encouraging others to test, with appropriate expectations, and helping to educate, enlighten and encourage. After all, the more people who test and are excited about the results, the better for everyone else.

Today, I’m extremely pleased to bring you a wonderful guest article written by Karin Corbeil as spokesperson for a very fine group of researchers at www.dnaadoption.com.

I love it when citizen science really works, pushes the envelope, makes discoveries and then the scientists develop new tools! This is a win-win for everyone in the genetic genealogy community – not just adoptees! I want to say a very big thank you to this wonderful team for their fine work.

Take it away Karin….

As genetic genealogists we are always looking for a better “mousetrap”. Tools and analyses that can better help us understand what we are actually looking at with our DNA results. For adoptees and those with unknown ancestors it can be even more important.

We at DNAAdoption are asked to explain over and over again why your half-sibling was predicted as a 1st cousin, or that predicted Close Family – 1st cousin could actually be a half-nephew, or a predicted 3rd cousin could be a 4th cousin. Ancestry doesn’t provide the detailed information needed to support their predicted relationship categories so providing the explanations was often a struggle.

We knew that you cannot draw or correlate any relationship inferences from either the total amount of shared DNA or the number of segments from the typical tools utilized by genetic genealogists because Ancestry’s totals will be lower and their segments will be broken into more pieces due to the removal of segments identified by the Timber algorithm as invalid matches.[1]

So in order to get a better reference to how predictions are set by Ancestry, we at DNAAdoption gathered data from 1,122 matches of different testers who had confirmed these matches as specific relationships. A collaborative effort was led by Richard Weiss of the DNAAdoption team. Richard worked his magic with the data and the results are presented here.

The most interesting thing about some of the prediction vs the actual relationships was seeing how more distant relationships can vary so greatly. Look at the 4th cousin prediction, for example. This varies from a half 1st cousin once removed to an 8th cousin once removed. (Obviously, this confirmed 8th cousin once removed probably has a persistent or intact segment that, due to the randomness of DNA down the generations, persisted for many generations). This makes it extremely difficult to assess any predicted relationship at the 4th cousin level. Even 1st, 2nd and 3rd cousin predictions had wide variances.

The only conclusion we can draw from this is to use Ancestry predictions with extreme caution.

With this data we were then able to take the numbers and add to our DNA Prediction Chart that we use in our DNA classes at DNAAdoption.

We then incorporated this data into our Relationship Estimator Tool created by Jon Masterson.

Jon explains, “This small program is intended to make the DNA Prediction Chart Spreadsheet a bit easier to use. It is based entirely on the data in this spreadsheet plus some interpolation of missing values. The algorithm to determine the most likely relationship(s) is very simple and based on summing the score of valid entries in the table for a given input. It is very much an experiment and test. It is likely to be less accurate with close relationships where there is missing data in the spreadsheet. You can also save the match information that you generate.”

Extract the files from the zip file and run the RelationshipEstimator.exe

The following results are for the same person who has been confirmed as a 3rd cousin. The first set of data is from Gedmatch, the second set is from Ancestry. With this match the actual total cMs over 5 cMs are 122.9 with 5 segments; the same person shows Ancestry Shared DNA of 112 cMs with 7 segments.

For 23andMe/FTDNA/Gedmatch add the individual segment lengths in the first box using a slash “/” between each number.

At the “Source” box select 23andMe/FTDNA/Gedmatch, then click the “Process” button. Several possible estimated relationships will show.

For Ancestry, enter the total cMs, the # of segments. At the “Source” box select “Ancestry”, then “Process”.

By seeing the larger variances with the Ancestry data (6 estimated relationships vs 3 for the actual Gedmatch data) we can only encourage those on Ancestry to upload your raw data file to Gedmatch. Of course, we still hope that one day Ancestry will release the full segment data in a chromosome browser.

We at DNAAdoption continue to try and provide analyses and tools, many times in cooperation with DNAGedcom, to give those searching for their roots better information. But we are “not for adoptees only” and provide this information for the genetic genealogy community as a whole. We plan to add more data to these analyses in the near future. We hope you will find it useful.

It’s that time again, to look over the year that has just passed and take stock of what has happened in the genetic genealogy world. I wrote a review in both 2012 and 2013 as well. Looking back, these momentous happenings seem quite “old hat” now. For example, both www.GedMatch.com and www.DNAGedcom.com, once new, have become indispensable tools that we take for granted. Please keep in mind that both of these tools (as well as others in the Tools section, below) depend on contributions, although GedMatch now has a tier 1 subscription offering for $10 per month as well.

So what was the big news in 2014?

Beyond the Tipping Point

Genetic genealogy has gone over the tipping point. Genetic genealogy is now, unquestionably, mainstream and lots of people are taking part. From the best I can figure, there are now approaching or have surpassed three million tests or test records, although certainly some of those are duplicates.

500,000+ at 23andMe

700,000+ at Ancestry

700,000+ at Genographic

The organizations above represent “one-test” companies. Family Tree DNA provides various kinds of genetic genealogy tests to the community and they have over 380,000 individuals with more than 700,000 test records.

In addition to the above mentioned mainstream firms, there are other companies that provide niche testing, often in addition to Family Tree DNA Y results.

In addition, there is what I would refer to as a secondary market for testing as well which certainly attracts people who are not necessarily genetic genealogists but who happen across their corporate information and decide the test looks interesting. There is no way of knowing how many of those tests exist.

Additionally, there is still the Sorenson data base with Y and mtDNA tests which reportedly exceeded their 100,000 goal.

Spencer Wells spoke about the “viral spread threshold” in his talk in Houston at the International Genetic Genealogy Conference in October and terms 2013 as the year of infection. I would certainly agree.

Autosomal Now the New Normal

Another change in the landscape is that now, autosomal DNA has become the “normal” test. The big attraction to autosomal testing is that anyone can play and you get lots of matches. Earlier in the year, one of my cousins was very disappointed in her brother’s Y DNA test because he only had a few matches, and couldn’t understand why anyone would test the Y instead of autosomal where you get lots and lots of matches. Of course, she didn’t understand the difference in the tests or the goals of the tests – but I think as more and more people enter the playground – percentagewise – fewer and fewer do understand the differences.

Case in point is that someone contacted me about DNA and genealogy. I asked them which tests they had taken and where and their answer was “the regular one.” With a little more probing, I discovered that they took Ancestry’s autosomal test and had no clue there were any other types of tests available, what they could tell him about his ancestors or genetic history or that there were other vendors and pools to swim in as well.

A few years ago, we not only had to explain about DNA tests, but why the Y and mtDNA is important. Today, we’ve come full circle in a sense – because now we don’t have to explain about DNA testing for genealogy in general but we still have to explain about those “unknown” tests, the Y and mtDNA. One person recently asked me, “oh, are those new?”

Ancient DNA

This year has seen many ancient DNA specimens analyzed and sequenced at the full genomic level.

The year began with a paper titled, “When Populations Collide” which revealed that contemporary Europeans carry between 1-4% of Neanderthal DNA most often associated with hair and skin color, or keratin. Africans, on the other hand, carry none or very little Neanderthal DNA.

A month later, a monumental paper was published that detailed the results of sequencing a 12,500 Clovis child, subsequently named Anzick or referred to as the Anzick Clovis child, in Montana. That child is closely related to Native American people of today.

In June, another paper emerged where the authors had analyzed 8000 year old bones from the Fertile Crescent that shed light on the Neolithic area before the expansion from the Fertile Crescent into Europe. These would be the farmers that assimilated with or replaced the hunter-gatherers already living in Europe.

Svante Paabo is the scientist who first sequenced the Neanderthal genome. Here is a great interview and speech. This man is so interesting. If you have not read his book, “Neanderthal Man, In Search of Lost Genomes,” I strongly recommend it.

In the fall, yet another paper was released that contained extremely interesting information about the peopling and migration of humans across Europe and Asia. This was just before Michael Hammer’s presentation at the Family Tree DNA conference, so I covered the paper along with Michael’s information about European ancestral populations in one article. The take away messages from this are two-fold. First, there was a previously undefined “ghost population” called Ancient North Eurasian (ANE) that is found in the northern portion of Asia that contributed to both Asian populations, including those that would become the Native Americans and European populations as well. Secondarily, the people we thought were in Europe early may not have been, based on the ancient DNA remains we have to date. Of course, that may change when more ancient DNA is fully sequenced which seems to be happening at an ever-increasing rate.

If I were to give a Citizen Scientist of the Year award, this year’s award would go unquestionably to Felix Chandrakumar for his work with the ancient genome files and making them accessible to the genetic genealogy world. Felix obtained the full genome files from the scientists involved in full genome analysis of ancient remains, reduced the files to the SNPs utilized by the autosomal testing companies in the genetic genealogy community, and has made them available at GedMatch.

The availability of these ancient results set off a sea of comparisons. Many people with Native heritage matched Anzick’s file at some level, and many who are heavily Native American, particularly from Central and South America where there is less admixture match Anzick at what would statistically be considered within a genealogical timeframe. Clearly, this isn’t possible, but it does speak to how endogamous populations affect DNA, even across thousands of years.

Because Anzick is matching so heavily with the Mexican, Central and South American populations, it gives us the opportunity to extract mitochondrial DNA haplogroups from the matches that either are or may be Native, if they have not been recorded before.

Needless to say, the matches of these ancient kits with contemporary people has left many people questioning how to interpret the results. The answer is that we don’t really know yet, but there is a lot of study as well as speculation occurring. In the citizen science community, this is how forward progress is made…eventually.

Furthermore, in a collaborative effort with Family Tree DNA, Felix formed an Ancient DNA project and uploaded the ancient autosomal files. This is the first time that consumers can match with Ancient kits within the vendor’s data bases.

Recently, GedMatch added a composite Archaic DNA Match comparison tool where your kit number is compared against all of the ancient DNA kits available. The output is a heat map showing which samples you match most closely.

Indeed, it has been a banner year for ancient DNA and making additional discoveries about DNA and our ancestors. Thank you Felix.

Haplogroup Definition

That SNP tsunami that we discussed last year…well, it made landfall this year and it has been storming all year long…in a good way. At least, ultimately, it will be a good thing. If you asked the haplogroup administrators today about that, they would probably be too tired to answer – as they’ve been quite overwhelmed with results.

The Big Y testing has been fantastically successful. This is not from a Family Tree DNA perspective, but from a genetic genealogy perspective. Branches have been being added to and sawed off of the haplotree on a daily basis. This forced the renaming of the haplogroups from the old traditional R1b1a2 to R-M269 in 2012. While there was some whimpering then, it would be nothing like the outright wailing now that would be occurring as haplogroup named reached 20 or so digits.

Alice Fairhurst discussed the SNP tsunami at the DNA Conference in Houston in October and I’m sure that the pace hasn’t slowed any between now and then. According to Alice, in early 2014, there were 4115 individual SNPs on the ISOGG Tree, and as of the conference, there were 14,238 SNPs, with the 2014 addition total at that time standing at 10,213. That is over 1000 per month or about 35 per day, every day.

Yes, indeed, that is the definition of a tsunami. Every one of those additions requires one of a number of volunteers, generally haplogroup project administrators to evaluate the various Big Y results, the SNPs and novel variants included, where they need to be inserted in the tree and if branches need to be rearranged. In some cases, naming request for previously unknown SNPs also need to be submitted. This is all done behind the scenes and it’s not trivial.

The project I’m closest to is the R1b L-21 project because my Estes males fall into that group. We’ve tested several, and I’ll be writing an article as soon as the final test is back.

The tree has grown unbelievably in this past year just within the L21 group. This project includes over 700 individuals who have taken the Big Y test and shared their results which has defined about 440 branches of the L21 tree. Currently there are almost 800 kits available if you count the ones on order and the 20 or so from another vendor.

Here is the L21 tree in January of 2014

Compare this with today’s tree, below.

Michael Walsh, Richard Stevens, David Stedman need to be commended for their incredible work in the R-L21 project. Other administrators are doing equivalent work in other haplogroup projects as well. I big thank you to everyone. We’d be lost without you!

One of the results of this onslaught of information is that there have been fewer and fewer academic papers about haplogroups in the past few years. In essence, by the time a paper can make it through the peer review cycle and into publication, the data in the paper is often already outdated relative to the Y chromosome. Recently a new paper was released about haplogroup C3*. While the data is quite valid, the authors didn’t utilize the new SNP naming nomenclature. Before writing about the topic, I had to translate into SNPese. Fortunately, C3* has been relatively stable.

The Family Tree DNA International Conference on Genetic Genealogy for project administrators is always wonderful, but this year was special because it was the 10th annual. And yes, it was my 10th year attending as well. In all these years, I had never had a photo with both Max and Bennett. Everyone is always so busy at the conferences. Getting any 3 people, especially those two, in the same place at the same time takes something just short of a miracle.

Ten years ago, it was the first genetic genealogy conference ever held, and was the only place to obtain genetic genealogy education outside of the rootsweb genealogy DNA list, which is still in existence today. Family Tree DNA always has a nice blend of sessions. I always particularly appreciate the scientific sessions because those topics generally aren’t covered elsewhere.

I thank Family Tree DNA for sponsoring all 10 conferences and continuing the tradition. It’s really an amazing feat when you consider that 15 years ago, this industry didn’t exist at all and wouldn’t exist today if not for Max and Bennett.

Education

Two educational venues offered classes for genetic genealogists and have made their presentations available either for free or very reasonably. One of the problems with genetic genealogy is that the field is so fast moving that last year’s session, unless it’s the very basics, is probably out of date today. That’s the good news and the bad news.

This seems to be the year that genetic genealogists are beginning to reconstruct their ancestors (on paper, not in the flesh) based on the DNA that the ancestors passed on to various descendants. Those segments are “gathered up” and reassembled in a virtual ancestor.

I utilized Kitty Cooper’s tool to do just that.

http://dna-explained.com/2014/10/03/ancestor-reconstruction/

I know it doesn’t look like much yet but this is what I’ve been able to gather of Henry Bolton, my great-great-great-grandfather.

Speaking of tools, we have some new tools that have been introduced this year as well.

Genome Mate is a desktop tool used to organize data collected by researching DNA comparsions and aids in identifying common ancestors. I have not used this tool, but there are others who are quite satisfied. It does require Microsoft Silverlight be installed on your desktop.

Charting Companion from Progeny Software, another tool I use, allows you to colorize and print or create pdf files that includes X chromosome groupings. This greatly facilitates seeing how the X is passed through your ancestors to you and your parents.

WikiTree is a free resource for genealogists to be able to sort through relationships involving pedigree charts. In November, they announced Relationship Finder.

Probably the best example I can show of how WikiTree has utilized DNA is using the results of King Richard III.

By clicking on the DNA icon, you see the following:

And then Richard’s Y, mitochondrial and X chromosome paths.

Since Richard had no descendants, to see how descendants work, click on his mother, Cecily of York’s DNA descendants and you’re shown up to 10 generations.

While this isn’t terribly useful for Cecily of York who lived and died in the 1400s, it would be incredibly useful for finding mitochondrial descendants of my ancestor born in 1802 in Virginia. I’d love to prove she is the daughter of a specific set of parents by comparing her DNA with that of a proven daughter of those parents! Maybe I’ll see if I can find her parents at WikiTree.

Kitty Cooper’s blog talks about additional tools. I have used Kitty’s Chromosome mapping tools as discussed in ancestor reconstruction.

Felix Chandrakumar has created a number of fun tools as well. Take a look. I have not used most of these tools, but there are several I’ll be playing with shortly.

Exits and Entrances

With very little fanfare, deCODEme discontinued their consumer testing and reminded people to download their date before year end.

I find this unfortunate because at one time, deCODEme seemed like a company full of promise for genetic genealogy. They failed to take the rope and run.

On a sad note, Lucas Martin who founded DNA Tribes unexpectedly passed away in the fall. DNA Tribes has been a long-time player in the ethnicity field of genetic genealogy. I have often wondered if Lucas Martin was a pseudonym, as very little information about Lucas was available, even from Lucas himself. Neither did I find an obituary. Regardless, it’s sad to see someone with whom the community has worked for years pass away. The website says that they expect to resume offering services in January 2015. I would be cautious about ordering until the structure of the new company is understood.

In the last month, a new offering has become available that may be trying to piggyback on the name and feel of DNA Tribes, but I’m very hesitant to provide a link until it can be determined if this is legitimate or bogus. If it’s legitimate, I’ll be writing about it in the future.

However, the big news exit was Ancestry’s exit from the Y and mtDNA testing arena. We suspected this would happen when they stopped selling kits, but we NEVER expected that they would destroy the existing data bases, especially since they maintain the Sorenson data base as part of their agreement when they obtained the Sorenson data.

The community is still hopeful that Ancestry may reverse that decision.

Ancestry – The Chromosome Browser War and DNA Circles

There has been an ongoing battle between Ancestry and the more seasoned or “hard-core” genetic genealogists for some time – actually for a long time.

The current and most long-standing issue is the lack of a chromosome browser, or any similar tools, that will allow genealogists to actually compare and confirm that their DNA match is genuine. Ancestry maintains that we don’t need it, wouldn’t know how to use it, and that they have privacy concerns.

Other than their sessions and presentations, they had remained very quiet about this and not addressed it to the community as a whole, simply saying that they were building something better, a better mousetrap.

In the fall, Ancestry invited a small group of bloggers and educators to visit with them in an all-day meeting, which came to be called DNA Day.

In retrospect, I think that Ancestry perceived that they were going to have a huge public relations issue on their hands when they introduced their new feature called DNA Circles and in the process, people would lose approximately 80% of their current matches. I think they were hopeful that if they could educate, or convince us, of the utility of their new phasing techniques and resulting DNA Circles feature that it would ease the pain of people’s loss in matches.

I am grateful that they reached out to the community. Some very useful dialogue did occur between all participants. However, to date, nothing more has happened nor have we received any additional updates after the release of Circles.

In fact, the first thing you have to do when you find a DNA Circle that you have not verified utilizing raw data and/or chromosome browser tools from either 23andMe, Family Tree DNA or Gedmatch, is to talk your matches into transferring their DNA to Family Tree DNAor download to Gedmatch, or both.

I might add that the great irony of finding the Hickerson DNA Circle that led me to confirm that ancestry utilizing both Family Tree DNA and GedMatch is that today, when I checked at Ancestry, the Hickerson DNA Circle is no longer listed. So, I guess I’ve been somehow pruned from the circle. I wonder if that is the same as being voted off of the island. So, word to the wise…check your circles often…they change and not always in the upwards direction.

The Seamy Side – Lies, Snake Oil Salesmen and Bullys

Unfortunately a seamy side, an underbelly that’s rather ugly has developed in and around the genetic genealogy industry. I guess this was to be expected with the rapid acceptance and increasing popularity of DNA testing, but it’s still very unfortunate.

Some of this I expected, but I didn’t expect it to be so…well…blatant.

I don’t watch late night TV, but I’m sure there are now DNA diets and DNA dating and just about anything else that could be sold with the allure of DNA attached to the title.

I googled to see if this was true, and it is, although I’m not about to click on any of those links.

Unfortunately, within the ever-growing genetic genealogy community a rather large rift has developed over the past couple of years. Obviously everyone can’t get along, but this goes beyond that. When someone disagrees, a group actively “stalks” the person, trying to cost them their employment, saying hate filled and untrue things and even going so far as to create a Facebook page titled “Against<personname>.” That page has now been removed, but the fact that a group in the community found it acceptable to create something like that, and their friends joined, is remarkable, to say the least. That was accompanied by death threats.

Bullying behavior like this does not make others feel particularly safe in expressing their opinions either and is not conducive to free and open discussion. As one of the law enforcement officers said, relative to the events, “This is not about genealogy. I don’t know what it is about, yet, probably money, but it’s not about genealogy.”

Another phenomenon is that DNA is now a hot topic and is obviously “selling.” Just this week, this report was published, and it is, as best we can tell, entirely untrue.

There were several tip offs, like the city (Lanford) and county (Laurens County) is not in the state where it is attributed (it’s in SC not NC), and the name of the institution is incorrect (Johns Hopkins, not John Hopkins). Additionally, if you google the name of the magazine, you’ll see that they specialize in tabloid “faux reporting.” It also reads a lot like the King Richard genuine press release.

Earlier this year, there was a bogus institutional site created as well.

On one of the DNA forums that I frequent, people often post links to articles they find that are relevant to DNA. There was an interesting article, which has now been removed, correlating DNA results with latitude and altitude. I thought to myself, I’ve never heard of that…how interesting. Here’s part of what the article said:

Researchers at Aberdeen College’s Havering Centre for Genetic Research have discovered an important connection between our DNA and where our ancestors used to live.

Tiny sequence variations in the human genome sometimes called Single Nucleotide Polymorphisms (SNPs) occur with varying frequency in our DNA. These have been studied for decades to understand the major migrations of large human populations. Now Aberdeen College’s Dr. Miko Laerton and a team of scientists have developed pioneering research that shows that these differences in our DNA also reveal a detailed map of where our own ancestors lived going back thousands of years.

Dr. Laerton explains: “Certain DNA sequence variations have always been important signposts in our understanding of human evolution because their ages can be estimated. We’ve known for years that they occur most frequently in certain regions [of DNA], and that some alleles are more common to certain geographic or ethnic groups, but we have never fully understood the underlying reasons. What our team found is that the variations in an individual’s DNA correlate with the latitudes and altitudes where their ancestors were living at the time that those genetic variations occurred. We’re still working towards a complete understanding, but the knowledge that sequence variations are connected to latitude and altitude is a huge breakthrough by itself because those are enough to pinpoint where our ancestors lived at critical moments in history.”

The story goes on, but at the bottom, the traditional link to the publication journal is found.

The picture on the masthead of the “Aberdeen College” website looks very much like a photo of Aberdeen University. This fake news item seems to be the only live page on the Aberdeen College website. If you click on any other links, including the link to the so-called “Journal of Genetic Science”, you get a message that the website is experienced “unusually high traffic”. There appears to be no such journal anyway.

We also realized that Dr. Laerton, reversed, is “not real.”

I still have no idea why someone would invest the time and effort into the fake website emulating the University of Aberdeen, but I’m absolutely positive that their motives were not beneficial to any of us.

What is the take-away of all of this? Be aware, very aware, skeptical and vigilant. Stick with the mainstream vendors unless you realize you’re experimenting.

King Richard

The much anticipated and long-awaited DNA results on the remains of King Richard III became available with a very unexpected twist. While the science team feels that they have positively identified the remains as those of Richard, the Y DNA of Richard and another group of men supposed to have been descended from a common ancestor with Richard carry DNA that does not match.

One of the life lessons that genetic genealogy has held for me is that we are more closely related that we ever knew, to more people than we ever expected, and we are far more alike than different. A recent paper recently published by 23andMe scientists documents that people’s ethnicity reflect the historic events that took place in the part of the country where their ancestors lived, such as slavery, the Trail of Tears and immigration from various worldwide locations.

The study leverages samples of unprecedented size and precise estimates of ancestry to reveal the rate of ancestry mixing among American populations, and where it has occurred geographically:

All three groups – African Americans, European Americans and Latinos – have ancestry from Africa, Europe and the Americas.

Approximately 3.5 percent of European Americans have 1 percent or more African ancestry. Many of these European Americans who describe themselves as “white” may be unaware of their African ancestry since the African ancestor may be 5-10 generations in the past.

European Americans with African ancestry are found at much higher frequencies in southern states than in other parts of the US.

The ancestry proportions point to the different regional impacts of slavery, immigration, migration and colonization within the United States:

The highest levels of African ancestry among self-reported African Americans are found in southern states, especially South Carolina and Georgia.

One in every 20 African Americans carries Native American ancestry.

More than 14 percent of African Americans from Oklahoma carry at least 2 percent Native American ancestry, likely reflecting the Trail of Tears migration following the Indian Removal Act of 1830.

Among self-reported Latinos in the US, those from states in the southwest, especially from states bordering Mexico, have the highest levels of Native American ancestry.

So what does 2015 hold? I don’t know, but I can’t wait to find out. Hopefully, it holds more ancestors, whether discovered through plain old paper research, cousin DNA testing or virtually raised from the dead!

What would my wish list look like?

More ancient genomes sequenced, including ones from North and South America.

There has been a lot of discussion lately, and I mean REALLY a lot, about chromosome browsers, the need or lack thereof, why, and what the information really means.

For the old timers in the field, we know the story, the reasons, and the backstory, but a lot of people don’t. Not only are they only getting pieces of the puzzle, they’re confused about why there even is a puzzle. I’ve been receiving very basic questions about this topic, so I thought I’d write an article about chromosome browsers, what they do for us, why we need them, how we use them and the three vendors, 23andMe, Ancestry and Family Tree DNA, who offer autosomal DNA products that provide a participant matching data base.

The Autosomal Goal

Autosomal DNA, which tests the part of your DNA that recombines between parents every generation, is utilized in genetic genealogy to do a couple of things.

To confirm your connection to a specific ancestor through matches to other descendants.

To break down genealogy brick walls.

Determine ethnicity percentages which is not the topic of this article.

The same methodology is used for items 1 and 2.

In essence, to confirm that you share a common ancestor with someone, you need to either:

Be a close relative – meaning you tested your mother and/or father and you match as expected. Or, you tested another known relative, like a first cousin, for example, and you also match as expected. These known relationships and matches become important in confirming or eliminating other matches and in mapping your own chromosomes to specific ancestors.

A triangulated match to at least two others who share the same distant ancestor. This happens when you match other people whose tree indicates that you share a common ancestor, but they are not previously known to you as family.

Triangulation is the only way you can prove that you do indeed share a common ancestor with someone not previously identified as family.

In essence, triangulation is the process by which you match people who match you genetically with common ancestors through their pedigree charts. I wrote about the process in this article “Triangulation for Autosomal DNA.”

To prove that you share a common ancestor with another individual, the DNA of three proven descendants of that common ancestor must match at the same location. I should add a little * to this and the small print would say, “ on relatively large segments.” That little * is rather controversial, and we’ll talk about that in a little bit. This leads us to the next step, which is if you’re a fourth person, and you match all three of those other people on that same segment, then you too share that common ancestor. This is the process by which adoptees and those who are searching for the identity of a parent work through their matches to work forward in time from common ancestors to, hopefully, identify candidates for individuals who could be their parents.

Why do we need to do this? Isn’t just matching our DNA and seeing a common ancestor in a pedigree chart with one person enough? No, it isn’t. I recently wrote about a situation where I had a match with someone and discovered that even though we didn’t know it, and still don’t know exactly how, we unquestionably share two different ancestral lines.

When you look at someone’s pedigree chart, you may see immediately that you share more than one ancestral line. Your shared DNA could come from either line, both lines, or neither line – meaning from an unidentified common ancestor. In genealogy parlance, those are known as brick walls!

The only way to prove that you actually do share a genealogy relative with someone that is not a known family member is to triangulate. This means searching other matches with the same ancestral surname, preferably finding someone with the same proven ancestral tree, and confirming that the three of you not only share matching DNA, but all three share the same matching DNA segments. This means that you share the same ancestor.

Triangulation itself is a two-step process followed by a third step of mapping your own DNA so that you know where various segments came from. The first two triangulation steps are discovering that you match other people on a common segment(s) and then determining if the matches also match each other on those same segments.

Both Family Tree DNA and 23andMe, as vendors have provided ways to do most of this. www.gedmatch.com and www.dnagedcom.com both augment the vendor offerings. Ancestry provides no tools of this type – which is, of course, what has precipitated the chromosome browser war.

Let’s look at how the vendors products work in actual practice.

Family Tree DNA

1. Chromosome browser – do they match you?

Family Tree DNA makes it easy to see who you match in common with someone else in their matching tool, by utilizing the ICW crossed X icon.

In the above example, I am seeing who I match in common with my mother. Sure enough, our three known cousins are the closest matches, shown below.

You can then push up to 5 individuals through to the chromosome browser to see where they match the participant.

The following chromosome browser is an example of a 4 person match showing up on the Family Tree DNA chromosome browser.

This example shows known cousins matching. But this is exactly the same scenario you’re looking for when you are matching previously unknown cousins – the exact same technique.

In this example, I am the participant, so these matches are matches to me and my chromosome is the background chromosome displayed. I have switched from my mother’s side to known cousins on my father’s side.

The chromosome browser shows that these three cousins all match the person whose chromosomes are being shown (me, in this case), but it doesn’t tell you if they also match each other. With known cousins, it’s very unlikely (in my case) that someone would match me from my mother’s side, and someone from my father’s side, but when you’re working with unknown cousins, it’s certainly possible. If your parents are from the same core population, like Germans or an endogamous population, you may well have people who match you on both sides of your family. Simply put, you can’t assume they don’t.

It’s also possible that the match is a genuine genealogical match, but you don’t happen to match on the exact same segments, so the ancestor can’t yet be confirmed until more cousins sharing that same ancestral line are found who do match, and it’s possible that some segments could be IBS, identical by state, meaning matches by chance, especially small segments, below the match threshold.

2. Matrix – do they match each other?

Family Tree DNA also provides a tool called the Matrix where you can see if all of the people who match on the same segment, also match each other at some place on their DNA.

The Matrix tool measures the same level of DNA as the default chromosome browser, so in the situation I’m using for an example, there is no issue. However, if you drop the threshold of the match level, you may well, and in this case, you will, find matches well below the match threshold. They are shown as matches because they have at least one segment above the match threshold. If you don’t have at least one segment above the threshold, you’ll never see these smaller matches. Just to show you what I mean, this is the same four people, above, with the threshold lowered to 1cM. All those little confetti pieces of color are smaller matches.

At Family Tree DNA, the match threshold is about 7cM. Each of the vendors has a different threshold and a different way of calculating that threshold.

The only reason I mention this is because if you DON’T match with someone on the matrix, but you also show matches at smaller segments, understand that matrix is not reporting on those, so matrix matches are not negative proof, only positive indications – when you do match, both on the chromosome browser and utilizing the matrix tool.

What you do know at this point is that these individuals all match you on the same segments, and that they match each other someplace on their chromosomes, but what you don’t know is if they match each other on the same locations where they match you.

If you are lucky and your matches are cousins or experienced genetic genealogists and are willing to take a look at their accounts, they can tell you if they match the other people on the same segments where they match you – but that’s the only way to know unless they are willing to download their raw data file to GedMatch. At GedMatch, you can adjust the match thresholds to any level you wish and you can compare one-to-one kits to see where any two kits who have provided you with their kit number match each other.

3. Downloading data – mapping your chromosome.

The “download to Excel” function at Family Tree DNA, located just above the chromosome browser graphic, on the left, provides you with the matching data of the individuals shown on the chromosome browser with their actual segment data shown. (The download button on the right downloads all of your matches, not just the ones shown in the browser comparison.)

The spreadsheet below shows the downloaded data for these four individuals. You can see on chromosome 15 (yellow) there are three distinct segments that match (pink, yellow and blue,) which is exactly what is reflected on the graphic browser as well.

On the spreadsheet below, I’ve highlighted, in red, the segments which appeared on the original chromosome browser – so these are only the matches at or over the match threshold.

As you can see, there are 13 in total.

Smaller Segments

Up to this point, the process I’ve shared is widely accepted as the gold standard.

In the genetic genealogy community, there are very divergent opinions on how to treat segments below the match threshold, or below even 10cM. Some people “throw them away,” in essence, disregard them entirely. Before we look at a real life example, let’s talk about the challenges with small segments.

When smaller segments match, along with larger segments, I don’t delete them, throw them away, or disregard them. I believe that they are tools and each one carries a message for us. Those messages can be one of four things.

This is a valid IBD, meaning identical by descent, match where the segment has been passed from one specific ancestor to all of the people who match and can be utilized as such.

This is an IBS match, meaning identical by state, and is called that because we can’t yet identify the common ancestor, but there is one. So this is actually IBD but we can’t yet identify it as such. With more matches, we may well be able to identify it as IBD, but if we throw it away, we never get that chance. As larger data bases and more sophisticated software become available, these matches will fall into place.

This is an IBS match that is a false match, meaning the DNA segments that we receive from our father and mother just happen to align in a way that matches another person. Generally these are relatively easy to determine because the people you match won’t match each other. You also won’t tend to match other people with the same ancestral line, so they will tend to look like lone outliers on your match spreadsheets, but not always.

This is an IBS match that is population based. These are much more difficult to determine, because this is a segment that is found widely in a population. The key to determining these pileup areas, as discussed in the Ancestry article about their new phasing technique, if that you will find this same segment matching different proven lineages. This is the reason that Ancestry has implemented phasing – to identify and remove these match regions from your matches. Ancestry provided a graphic of my pileup areas, although they did not identify for me where on my chromosomes these pileup regions occurred. I do have some idea however, because I’ve found a couple of areas where I have matches from my mother’s side of the family from different ancestors – so these areas must be IBS on a population level. That does not, however, make them completely irrelevant.

The challenge, and problem, is where to make the cutoff when you’re eliminating match areas based on phased data. For example, I lost all of my Acadian matches at Ancestry. Of course, you would expect an endogamous population to share lots of the same DNA – and there are a huge number of Acadian descendants today – they are in fact a “population,” but those matches are (were) still useful to me.

I utilize Acadian matches from Family Tree DNA and 23andMe to label that part of my chromosome “Acadian” even if I can’t track it to a specific Acadian ancestor, yet. I do know from which of my mother’s ancestors it originated, her great-grandfather, who is her Acadian ancestor. Knowing that much is useful as well.

The same challenge exists for other endogamous groups – people with Jewish, Mennonite/Brethren/Amish, Native American and African American heritage searching for their mixed race roots arising from slavery. In fact, I’d go so far as to say that this problem exists for anyone looking for ancestors beyond the 5th or 6th generation, because segments inherited from those ancestors, if there are any, will probably be small and fall below the generally accepted match thresholds. The only way you will be able to find them, today, is the unlikely event that there is one larger segments, and it leads you on a search, like the case with Sarah Hickerson.

I want to be very clear – if you’re looking for only “sure thing” segments – then the larger the matching segment, the better the odds that it’s a sure thing, a positive, indisputable, noncontroversial match. However, if you’re looking for ancestors in the distant past, in the 5th or 6th generation or further, you’re not likely to find sure thing matches and you’ll have to work with smaller segments. It’s certainly preferable and easier to work with large matches, but it’s not always possible.

In the Ralph and Coop paper, The Geography of Recent Genetic Ancestry Across Europe, they indicated that people who matched on segments of 10cM or larger were more likely to have a common ancestor with in the past 500 years. Blocks of 4cM or larger were estimated to be from populations from 500-1500 years ago. However, we also know that there are indeed sticky segments that get passed intact from generation to generation, and also that some segments don’t get divided in a generation, they simply disappear and aren’t passed on at all. I wrote about this in my article titled, Generational Inheritance.

Part of the disagreement within the genetic genealogy community is based on a difference in goals. People who are looking for the parents of adoptees are looking first and primarily as “sure thing” matches and the bigger the match segment, of course, the better because that means the people are related more closely in time. For them, smaller segments really are useless. However, for people who know their recent genealogy and are looking for those brick wall ancestors, several generations back in time, their only hope is utilizing those smaller segments. This not black and white but shades of grey. One size does not fit all. Nor is what we know today the end of the line. We learn every single day and many of our learning experiences are by working through our own unique genealogical situations – and sharing our discoveries.

On this next spreadsheet, you can see the smaller segments surrounding the larger segments – in other words, in the same match cluster – highlighted in green. These are the segments that would be discarded as invalid if you were drawing the line at the match threshold. Some people draw it even higher, at 10 cM. I’m not being critical of their methodology or saying they are wrong. It may well work best for them, but discarding small segments is not the only approach and other approaches do work, depending on the goals of the researcher. I want my 33% IBD segments, thank you very much.

All of the segments highlighted in purple match between at least three cousins. By checking the other cousins accounts, I can validate that they do all match each other as well, even though I can’t tell this through the Family Tree DNA matrix below the matching threshold. So, I’ve proven these are valid. We all received them from our common ancestor.

What about the white rows? Are those valid matches, from a common ancestor? We don’t have enough information to make that determination today.

Downloading my data, and confirming segments to this common ancestor allows me to map my own chromosomes. Now, I know that if someone matches me and any of these three cousins on chromosome 15, for example, between 33,335,760 and 58,455,135 – they are, whether they know it or not, descended from our common ancestral line.

In my opinion, I would think it a shame to discount or throw away all of these matches below 7cM, because you would be discounting 39 of your 52 total matches, or 75% of them. I would be more conservative in assigning my segments with only one cousin match to any ancestor, but I would certainly note the match and hope that if I added other cousins, that segment would be eventually proven as IBD.

I used positively known cousins in this example because there is no disputing the validity of these matches. They were known as cousins long before DNA testing.

Breaking Down Brick Walls

This is the same technique utilized to break down brick walls – and the more cousins you have tested, so that you can identify the maximum number of chromosome pieces of a particular ancestor – the better.

Hey, just for fun, want to see what chromosome 15 looks like in this much larger sample???

In this case, we were trying to break down a brick wall. We needed to determine if Sarah Hickerson was the mother of Elijah Vannoy. All of the individuals in the left “Name” column are proven Vannoy cousins from Elijah, or in one case, William, from another child of Sarah Hickerson. The individuals in the right “Match” column are everyone in the cousin match group plus the people in green who are Hickerson/Higginson descendants. William, in green, is proven to descend from Sarah Hickerson and her husband, Daniel Vannoy.

The first part of chromosome 15 doesn’t overlap with the rest. Buster, David and I share another ancestral line as well, so the match in the non-red section of chromosome 15 may well be from that ancestral line. It becomes an obvious possibility, because none of the people who share the Vannoy/Hickerson/Higginson DNA are in that small match group.

All of the red colored cells do overlap with at least one other individual in that group and together they form a cluster. The yellow highlighted cells are the ones over the match threshold. The 6 Hickerson/Higginson descendants are scattered throughout this match group.

And yes, for those who are going to ask, there are many more Vannoy/Hickerson triangulated groups. This is just one of over 60 matching groups in total, some with matches well above the match threshold. But back to the chromosome browser wars!

23andMe

This example from 23andMe shows why it’s so very important to verify that your matches also match each other.

Blue and purple match segments are to two of the same cousins that I used in the comparison at Family Tree DNA, who are from my father’s side. Green is my first cousin from my mother’s side. Note that on chromosome 11, they both match me on a common segment. I know by working with them that they don’t match each other on that segment, so while they are both related to me, on chromosome 11, it’s not through the same ancestor. One is from my father’s side and one is from my mother’s side. If I hadn’t already known that, determining if they matched each other would be the acid test and would separate them into 2 groups.

23andMe provides you with a tool to see who your matches match that you match too. That’s a tongue twister.

In essence, you can select any individual, meaning you or anyone that you match, on the left hand side of this tool, and compare them to any 5 other people that you match. In my case above, I compared myself to my cousins, but if I want to know if my cousin on my mother’s side matches my two cousins on my father’s side, I simply select her name on the left and theirs on the right by using the drop down arrows.

I would show you the results, but it’s in essence a blank chromosome browser screen, because she doesn’t match either of them, anyplace, which tells me, if I didn’t already know, that these two matches are from different sides of my family.

However, in other situations, where I match my cousin Daryl, for example, as well as several other people on the same segment, I want to know how many of these people Daryl matches as well. I can enter Daryl’s name, with my name and their names in the group of 5, and compare. 23andMe facilitates the viewing or download of the results in a matrix as well, along with the segment data. You can also download your entire list of matches by requesting aggregated data through the link at the bottom of the screen above or the bottom of the chromosome display.

I find it cumbersome to enter each matches name in the search tool and then enter all of the other matches names as well. By utilizing the tools at www.dnagedcom.com, you can determine who your matches match as well, in common with you, in one spreadsheet. Here’s an example. Daryl in the chart below is my match, and this tool shows you who else she matches that I match as well, and the matching segments. This allows me to correlate my match with Gwen for example, to Daryl’s match to Gwen to see if they are on the same segments.

As you can see, Daryl and I both match Gwen on a common segment. On my own chromosome mapping spreadsheet, I match several other people as well at that location, at other vendors, but so far, we haven’t been able to find any common genealogy.

Ancestry.com

At Ancestry.com, I have exactly the opposite problem. I have lots of people I DNA match, and some with common genealogy, but no tools to prove the DNA match is to the common ancestor.

Hence, this is the crux of the chromosome browser wars. I’ve just showed you how and why we use chromosome browsers and tools to show if our matches match each other in addition to us and on which segments. I’ve also illustrated why. Neither 23andMe nor Family Tree DNA provides perfect tools, which is why we utilize both GedMatch and DNAGedcom, but they do provide tools. Ancestry provides no tools of this type.

At Ancestry, you have two kinds of genetic matches – ones without tree matches and ones with tree matches. Pedigree matching is a service that Ancestry provides that the other vendors don’t. Unfortunately, it also leads people to believe that because they match these people genetically and share a tree, that the tree shown is THE genetic match and it’s to the ancestor shown in the tree. In fact, if the tree is wrong, either your tree or their tree, and you match them genetically, you will show up as a pedigree match as well. Even if both pedigrees are right, that still doesn’t mean that your genetic match is through that ancestor.

How many bad trees are at Ancestry percentagewise? I don’t know, but it’s a constant complaint and there is absolutely nothing Ancestry can do about it. All they can do is utilize what they have, which is what their customers provide. And I’m glad they do. It does make the process of working through your matches much easier. It’s a starting point. DNA matches with trees that also match your pedigree are shown with Ancestry’s infamous shakey leaf.

In fact, in my Sarah Hickerson article, it was a shakey leaf match that initially clued me that there was something afoot – maybe. I had to shift to another platform (Family Tree DNA) to prove the match however, where I had tools and lots of known cousins.

At Ancestry, I now have about 3000 matches in total, and of those, I have 33 shakey leaves – or people with whom I also share an ancestor in our pedigree charts. A few of those are the same old known cousins, just as genealogy crazy as me, and they’ve tested at all 3 companies.

The fly in the ointment, right off the bat, is that I noticed in several of these matches that I ALSO share another ancestral line.

Now, the great news is that Ancestry shows you your surnames in common, and you can click on the surname and see the common individuals in both trees.

The bad news is that you have to notice and click to see that information, found in the lower left hand corner of this screen.

In this case, Cook is an entirely different line, not connected to the McKee line shown.

However, in this next case, we have the same individual entered in our software, but differently. It wasn’t close enough to connect as an ancestor, but close enough to note. It turns out that Sarah Cook is the mother of Fairwick Claxton, but her middle name was not Helloms, nor was her maiden name, although that is a long-standing misconception that was proven incorrect with her husband’s War of 1812 documents many years ago. Unfortunately, this misinformation is very widespread in trees on the internet.

Out of curiosity, and now I’m sorry I did this because it’s very disheartening – I looked to see what James Lee Claxton/Clarkson’s wife’s name was shown to be on the first page of Ancestry’s advanced search matches.

Despite extensive genealogical and DNA research, we don’t know who James Lee Claxton/Clarkson’s parents are, although we’ve disproven several possibilities, including the most popular candidate pre-DNA testing. However, James’ wife was positively Sarah Cook, as given by her, along with her father’s name, and by witnesses to their marriage provided when she applied for a War of 1812 pension and bounty land. I have the papers from the National Archives.

James Lee Claxton’s wife, Sara Cook is identified as follows in the first 50 Ancestry search entries.

Sarah Cook – 4

Incorrect entries:

Sarah Cook but with James’ parents listed – 3

Sarah Helloms Cook – 2, one with James’ parents

Sarah Hillhorns – 15

Sarah Cook Hitson – 13, some with various parents for James

No wife, but various parents listed for James – 12

No wife, no parents – 1

I’d much rather see no wife and no parents than incorrect information.

Ancestry themselves in their paper titled “Identifying groups of descendants using pedigrees and genetically inferred relationships in a large database” says, “”As with all analyses relating to DNA Circles™, tree quality is also an important caveat and limitation.” So Ancestry is aware, but they are trying to leverage and utilize one of their biggest assets, their trees.

This brings us to DNA Circles. I reviewed Ancestry’s new product release extensively in my Ancestry’s Better Mousetrap article. To recap briefly, Ancestry gathers your DNA matches together, and then looks for common ancestors in trees that are public using an intelligent ranking algorithm that takes into account:

The confidence that the match is due to recent genealogical history (versus a match due to older genealogical history or a false match entirely).

The confidence that the identified common recent ancestor represents the same person in both online pedigrees.

The confidence that the individuals have a match due to the shared ancestor in question as opposed to from another ancestor or from more distant genealogical history.

The key here is that Ancestry is looking for what they term “recent genealogical history.” In their paper they define this as 10 generations, but the beta version of DNA Circles only looks back 7 generations today. This was also reflected in their phasing paper, “Discovering IBD matches across a large, growing database.”

However, the unfortunate effect has been in many cases to eliminate matches, especially from endogamous groups. By way of example, I lost my Acadian matches in the Ancestry new product release. They would have been more than 7 generations back, and because they were endogamous, they may have “looked like” IBS segments, if IBS is defined at Ancestry as more than 7 or 10 generations back. Hopefully Ancestry will tweek this algorithm in future releases.

Ancestry, according to their paper, “Identifying groups of descendants using pedigrees and genetically inferred relationships in a large database,” then clusters these remaining matching individuals together in Circles based on their pedigree charts. You will match some of these people genetically, and some of them will not match you but will match each other. Again, according to the paper, “these confidence levels are calculated by the direct-line pedigree size, the number of shared ancestral couples and the generational depth of the shared MRCA couple.”

Ancestry notes that, “using the concordance of two independent pieces of information, meaning pedigree relationships and patterns of match sharing among a set of individuals, DNA Circles can serve as supporting evidence for documented pedigree lines.” Notice, Ancestry did NOT SAY proof. Nothing that Ancestry provides in their DNA product constitutes proof.

Ancestry continues by saying that Circles “opens the possibility for people to identify distant relatives with whom they do not share DNA directly but with whom they still have genetic evidence supporting the relationship.”

In other words, Ancestry is being very clear in this paper, which is provided on the DNA Circles page for anyone with Circles, that they are giving you a tool, not “the answer,” but one more piece of information that you can consider as evidence.

You can see in my Joel Vannoy circle that I match both of these people both genetically and on their tree.

We, in the genetic genealogy community, need proof. It certainly could be available, technically – because it is with other vendors and third party sites.

We need to be able to prove that our matches also match each other, and utilizing Ancestry’s tools, we can’t. We also can’t do this at Ancestry by utilizing third party tools, so we’re in essence, stuck.

We can either choose to believe, without substantiation, that we indeed share a common ancestor because we share DNA segments with them plus a pedigree chart from that common ancestor, or we can initiate a conversation with our match that leads to either or both of the following questions:

Have you or would you upload your raw data to GedMatch?

Have you or would you upload your raw data file to Family Tree DNA?

Let the begging begin!!!

The Problem

In a nutshell, the problem is that even if your Ancestry matches do reply and do upload their file to either Family Tree DNA or GedMatch or both, you are losing most of the potential information available, or that would be available, if Ancestry provided a chromosome browser and matrix type tool.

In other words, you’d have to convince all of your matches and then they would have to convince all of the matches in the circle that they match and you don’t to upload their files.

Given that, of the 44 private tree shakey leaf matches that I sent messages to about 2 weeks ago, asking only for them to tell me the identity of our common pedigree ancestor, so far 2 only of them have replied, the odds of getting an entire group of people to upload files is infinitesimal. You’d stand a better chance of winning the lottery.

One of the things Ancestry excels at is marketing.

If you’ve seen any of their ads, and they are everyplace, they focus on the “feel good” and they are certainly maximizing the warm fuzzy feelings at the holidays and missing those generations that have gone before us.

This is by no means a criticism, but it is why so many people do take the Ancestry DNA test. It’s advertised as easy and you’ll learn more about your family. And you do, no question – you learn about your ethnicity and you get a list of DNA matches, pedigree matches when possible and DNA Circles.

The list of what you don’t get is every bit as important, a chromosome browser and tools to see whether your matches also match each other. However, most of their customers will never know that.

Judging by the high percentage of inaccurate trees I found at Ancestry in my little experiment relative to the known and documented wife’s name of James Lee Claxton, which was 96%, based on just the first page of 50 search matches, it would appear that about 96% of Ancestry’s clientele are willing to believe something that someone else tells them without verification. I doubt that it matters whether that information is a tree or a DNA test where they are shown matches with common pedigree charts and circles. I don’t mean this to be critical of those people. We all began as novices and we need new people to become interested in both genealogy and DNA testing.

I suspect that most of Ancestry’s clients, especially new ones, simply don’t have a clue that there is a problem, let alone the magnitude and scope. How would they? They are just happy to find information about their ancestor. And as someone said to me once – “but there are so many of those trees (with a wrong wife’s name), how can they all be wrong?” Plus, the ads, at least some of them, certainly suggest that the DNA test grows your family tree for you.

The good news in all of this is that Ancestry’s widespread advertising has made DNA testing just part of the normal things that genealogists do. Their marketing expertise along with recent television programs have served to bring DNA testing into the limelight. The bad news is that if people test at Ancestry instead of at a vendor who provides tools, we, and they, lose the opportunity to utilize those results to their fullest potential. We, and they, lose any hope of proving an ancestor utilizing DNA. And let’s face it, DNA testing and genealogy is about collaboration. Having a DNA test that you don’t compare against others is pointless for genealogy purposes.

When a small group of bloggers and educators visited Ancestry in October, 2014, for what came to be called DNA Day, we discussed the chromosome browser and Ancestry’s plans for their new DNA Circles product, although it had not yet been named at that time. I wrote about that meeting, including the fact that we discussed the need for a chromosome browser ad nauseum. Needless to say, there was no agreement between the genetic genealogy community and the Ancestry folks.

When we discussed the situation with Ancestry they talked about privacy and those types of issues, which you can read about in detail in that article, but I suspect, strongly, that the real reason they aren’t keen on developing a chromosome browser lies in different areas.

Ancestry truly believes that people cannot understand and utilize a chromosome browser and the information it provides. They believe that people who do have access to chromosome browsers are interpreting the results incorrectly today.

They do not want to implement a complex feature for a small percentage of their users…the number bantered around informally was 5%…and I don’t know if that was an off-the-cuff number or based on market research. However, if you compare that number with the number of accurate versus inaccurate pedigree charts in my “James Claxton’s wife’s name” experiment, it’s very close…so I would say that the 5% number is probably close to accurate.

They do not want to increase their support burden trying to explain the results of a chromosome browser to the other 95%. Keep in mind the number of users you’re discussing. They said in their paper they had 500,000 DNA participants. I think it’s well over 700,000 today, and they clearly expect to hit 1 million in 2015. So if you utilize a range – 5% of their users are 25,000-50,000 and 95% of their users are 475,000-950,000.

Their clients have already paid their money for the test, as it is, and there is no financial incentive for Ancestry to invest in an add-on tool from which they generate no incremental revenue and do generate increased development and support costs. The only benefit to them is that we shut up!

So, the bottom line is that most of Ancestry’s clients don’t know or care about a chromosome browser. There are, however, a very noisy group of us who do.

Many of Ancestry’s clients who purchase the DNA test do so as an impulse purchase with very little, if any, understanding of what they are purchasing, what it can or will do for them, at Ancestry or anyplace else, for that matter.

Any serious genealogist who researched the autosomal testing products would not make Ancestry their only purchase, especially if they could only purchase one test. Many, if not most, serious genealogists have tested at all three companies in order to fish in different ponds and maximize their reach. I suspect that most of Ancestry’s customers are looking for simple and immediate answers, not tools and additional work.

The flip side of that, however, if that we are very aware of what we, the genetic genealogy industry needs, and why, and how frustratingly lacking Ancestry’s product is.

Company Focus

It’s easy for us as extremely passionate and focused consumers to forget that all three companies are for-profit corporations. Let’s take a brief look at their corporate focus, history and goals, because that tells a very big portion of the story. Every company is responsible first and foremost to their shareholders and owners to be profitable, as profitable as possible which means striking the perfect balance of investment and expenditure with frugality. In corporate America, everything has to be justified by ROI, or return on investment.

Family Tree DNA

Family Tree DNA was the first one of the companies to offer DNA testing and was formed in 1999 by Bennett Greenspan and Max Blankfeld, both still principles who run Family Tree DNA, now part of Gene by Gene, on a daily basis. Family Tree DNA’s focus is only on genetic genealogy and they have a wide variety of products that produce a spectrum of information including various Y DNA tests, mitochondrial, autosomal, and genetic traits. They are now the only commercial company to offer the Y STR and mitochondrial DNA tests, both very important tools for genetic genealogists, with a great deal of information to offer about our ancestors.

In April 2005, National Geographic’s Genographic project was announced in partnership with Family Tree DNA and IBM. The Genographic project, was scheduled to last for 5 years, but is now in its 9th year. Family Tree DNA and National Geographic announced Geno 2.0 in July of 2012 with a newly designed chip that would test more than 12,000 locations on the Y chromosome, in addition to providing other information to participants.

The Genographic project provided a huge boost to genetic genealogy because it provided assurance of legitimacy and brought DNA testing into the living room of every family who subscribed to National Geographic magazine. Family Tree DNA’s partnership with National Geographic led to the tipping point where consumer DNA testing became mainstream.

In 2011 the founders expanded the company to include clinical genetics and a research arm by forming Gene by Gene. This allowed them, among other things, to bring their testing in house by expanding their laboratory facilities. They have continued to increase their product offerings to include sophisticated high end tests like the Big Y, introduced in 2013.

23andMe

23andMe is also privately held and began offering testing for medical and health information in November 2007, initially offering “estimates of predisposition for more than 90 traits ranging from baldness to blindness.” Their corporate focus has always been in the medical field, with aggregated customer data being studied by 23andMe and other researchers for various purposes.

In 2009, 23andMe began to offer the autosomal test for genealogists, the first company to provide this service. Even though, by today’s standards, it was very expensive, genetic genealogists flocked to take this test.

In 2013, after several years of back and forth with 23andMe ultimately failing to reply to the FDA, the FDA forced 23andMe to stop providing the medical results. Clients purchasing the 23andMe autosomal product since November of 2013 receive only ethnicity results and the genealogical matching services.

23andMe is clearly focused on genetics, but not primarily genetic genealogy, and their corporate focus during this last year in particular has been, I suspect, on how to survive, given the FDA action. If they steer clear of that landmine, I expect that we may see great things in the realm of personalized medicine from them in the future.

Genetic genealogy remains a way for them to attract people to increase their data base size for research purposes. Right now, until they can again begin providing health information, genetic genealogists are the only people purchasing the test, although 23andMe may have other revenue sources from the research end of the business

Ancestry.com

Ancestry.com is a privately held company. They were founded in the 1990s and have been through several ownership and organizational iterations, which you can read about in the wiki article about Ancestry.

During the last several years, Ancestry has purchased several other genealogy companies and is now the largest for-profit genealogy company in the world. That’s either wonderful or terrible, depending on your experiences and perspective.

Ancestry has had an on-again-off-again relationship with DNA testing since 2002, with more than one foray into DNA testing and subsequent withdrawal from DNA testing. If you are interested in the specifics, you can read about them in this article.

Ancestry’s goal, as it is with all companies, is profitability. However, they have given themselves a very large black eye in the genetic genealogy community by doing things that we consider to be civically irresponsible, like destroying the Y and mitochondrial DNA data bases. This still makes no sense, because while Ancestry spends money on one hand to acquire data bases and digitize existing records, on the other hand, they wiped out a data base containing tens of thousands of irreplaceable DNA records, which are genealogy records of a different type. This was discussed at DNA Day and the genetic genealogy community retains hope that Ancestry is reconsidering their decision.

Ancestry has been plagued by a history of missteps and mediocrity in their DNA products, beginning with their Y and mitochondrial DNA products and continuing with their autosomal product. Their first autosomal release included ethnicity results that gave many people very high percentages of Scandinavian heritage. Ancestry never acknowledged a problem and defended their product to the end…until the day when they announced an update titled….a whole new you. They are marketing geniuses. While many people found their updated product much more realistic, not everyone was happy. Judy Russell wrote a great summary of the situation.

It’s difficult, once a company has lost their credibility, for them to regain it.

I think Ancestry does a bang up job of what their primary corporate goal is….genealogy records and subscriptions for people to access those records. I’m a daily user. Today, with their acquisitions, it would be very difficult to be a serious genealogist without an Ancestry subscription….which is of course what their corporate goal has been.

Ancestry does an outstanding job of making everything look and appear easy. Their customer interface is intuitive and straightforward, for the most part. In fact, maybe they have made both genealogy and genetic genealogy look a little too easy. I say this tongue in cheek, full well knowing that the ease of use is how they attract so many people, and those are the same people who ultimately purchase the DNA tests – but the expectation of swabbing and the answer appearing is becoming a problem. I’m glad that Ancestry has brought DNA testing to so many people but this success makes tools like the chromosome browser/matrix that much more important – because there is so much genealogy information there just waiting to be revealed. I also feel that their level of success and visibility also visits upon them the responsibility for transparency and accuracy in setting expectations properly – from the beginning – with the ads. DNA testing does not “grow your tree” while you’re away.

I’m guessing Ancestry entered the DNA market again because they saw a way to sell an additional product, autosomal DNA testing, that would tie people’s trees together and provide customers with an additional tool, at an additional price, and give them yet another reason to remain subscribed every year. Nothing wrong with that either. For the owners, a very reasonable tactic to harness a captive data base whose ear you already have.

But Ancestry’s focus or priority is not now, and never has been, quality, nor genetic genealogy. Autosomal DNA testing is a tool for their clients, a revenue generation source for them, and that’s it. Again, not a criticism. Just the way it is.

In Summary

As I look at the corporate focus of the three players in this space, I see three companies who are indeed following their corporate focus and vision. That’s not a bad thing, unless the genetic genealogy community focus finds itself in conflict with the results of their corporate focus.

It’s no wonder that Family Tree DNA sponsors events like the International DNA Conference and works hand in hand with genealogists and project administrators. Their focus is and always has been genetic genealogy.

People do become very frustrated with Family Tree DNA from time to time, but just try to voice those frustrations to upper management at either 23andMe or Ancestry and see how far you get. My last helpdesk query to 23andMe submitted on October 24th has yet to receive any reply. At Family Tree DNA, I e-mailed the project administrator liaison today, the Saturday after Thanksgiving, hoping for a response on Monday – but I received one just a couple hours later – on a holiday weekend.

In terms of the chromosome browser war – and that war is between the genetic genealogy community and Ancestry.com, I completely understand both positions.

The genetic genealogy community has been persistent, noisy, and united. Petitions have been created and signed and sent to Ancestry upper management. To my knowledge, confirmation of any communications surrounding this topic with the exception of Ancestry reaching out to the blogging and education community, has never been received.

This lack of acknowledgement and/or action on the issues at hand frustrates the community terribly and causes reams of rather pointed and very direct replies to Anna Swayne and other Ancestry employees who are charged with interfacing with the public. I actually feel sorry for Anna. She is a very nice person. If I were in her position, I’d certainly be looking for another job and letting someone else take the brunt of the dissatisfaction. You can read her articles here.

I also understand why Ancestry is doing what they are doing – meaning their decision to not create a chromosome browser/match matrix tool. It makes sense if you sit in their seat and now have to look at dealing with almost a million people who will wonder why they have to use a chromosome browser and or other tools when they expected their tree to grow while they were away.

I don’t like Ancestry’s position, even though I understand it, and I hope that we, as a community, can help justify the investment to Ancestry in some manner, because I fully believe that’s the only way we’ll ever get a chromosome browser/match matrix type tool. There has to be a financial benefit to Ancestry to invest the dollars and time into that development, as opposed to something else. It’s not like Ancestry has additional DNA products to sell to these people. The consumers have already spent their money on the only DNA product Ancestry offers, so there is no incentive there.

As long as Ancestry’s typical customer doesn’t know or care, I doubt that development of a chromosome browser will happen unless we, as a community, can, respectfully, be loud enough, long enough, like an irritating burr in their underwear that just won’t go away.

The Future

What we “know” and can do today with our genomes far surpasses what we could do or even dreamed we could do 10 years ago or even 5 or 2 years ago. We learn everyday.

Yes, there are a few warts and issues to iron out. I always hesitate to use words like “can’t,” “never” and “always” or to use other very strongly opinionated or inflexible words, because those words may well need to be eaten shortly.

There is so much more yet to be done, discovered and learned. We need to keep open minds and be willing to “unlearn” what we think we knew when new and better information comes along. That’s how scientific discovery works. We are on the frontier, the leading edge and yes, sometimes the bleeding edge. But what a wonderful place to be, to be able to contribute to discovery on a new frontier, our own genes and the keys to our ancestors held in our DNA.

We have a brand new toy in our DNA sandbox today, thanks to Don Worth, a retired IT professional. I just love it when extremely talented people retire and we, in the genetic genealogy community, are the benefactors of their Act 2 evolution. Our volunteers make such a cumulative difference.

Drum Roll please.

Introducing…..the Autosomal DNA Segment Analyzer, or ADSA.

The name alone doesn’t make your heart skip beats, but the product will. This tool absolutely proves the adage that a picture is worth 1000 words.

Don described his new tool, which, by the way, is free and being hosted by Rob Warthen at www.dnagedcom.com, thus:

I created this tool in an attempt to put all the relevant information available that was needed to evaluate segment matches on a single, interactive web page. It relies on the three files for a single test kit that DNAgedcom.com collects from FamilyTreeDNA.com. These files include information about your matches, matching segment locations and sizes, and “in common with” (ICW) data. Using these files, the tool will construct a table for each chromosome which includes match and segment information as well as a visual graph of overlapping segments, juxtiposed with a customized, color-coded ICW matrix that will permit you to triangulate matching segments without having to look in multiple spreadsheets or on different screens in FamilyTreeDNA. Additional information, such as ancestral surnames, suggested relationship ranges, and matching segments and ICWs on other chromosomes is provided by hovering over match names or segments on the screen. Emails to persons you match may also be generated from the page. The web page produced by this program does not depend on any other files and may be saved as a stand-alone .html file that will function locally (or offline) in your browser. You can even email it to your matches as an attachment. You can play with a working sample output here.

Who wants to play with sample output? I wanted to jump right in. Word of caution…read the instructions FIRST, and pay attention, or you’ll wind up downloading your files twice. The instructions can be found here.

I can’t tell you how many times, when I’ve been working with matches, that I’ve wondered to myself, “How many other people match us on this segment?” For quite a while you could only download 5 people at a time, but now you can download the entire data file. I’m a visual person. To me, visually seeing is believing and the ADSA makes this process so much easier. Truly, a picture is worth 1000 words.

I knew right away there were three things I wanted to do, so I’m going to run through each one of the three by way of examples to illustrate what you can do with the power of this wonderfully visual tool. I’ve also anonymized the matches.

1. Clusters of matches.

I know I’ve told you that I’m mapping my DNA to ancestors. When I first saw Don’s output, I knew immediately that this tool would be invaluable for grouping people from the same ancestral lines.

Barbara, the second row, is my mother and her DNA in this equation is extremely useful. It helps me identify right away which side of my family a match comes from. If you don’t have a parent available, aunts, uncles, cousins, all help, especially cumulatively.

Before we begin working with the results, take a minute and just sit and look at the graphic below. These two clusters shown on this page, one near the top and the other at the bottom….they represent your ancestors. Two very different ones in this case. This may be the only way you’ll ever “see” them, by virtue of a group of their descendants DNA clustered together. A view through the keyhole of time provided by DNA. Isn’t it beautiful?

All of these results in this “cluster of matches” example are my matches. In other words, the file is mine and these are people who are matching me. You can see that this tool provides us with start and end segments, total cMs and SNPs, and e-mails, but the true power is in the visual representation of the ICW (in common with) matrix. The mapped segments are a nice touch too, and Don has listed these in progressive order, meaning from beginning to end of the segment (left to right.)

Look at this initial clustered group, shown enlarged below. The first individual matches me and mother on one pink segment, but matches me on two segments, a pink and a black. That means he’s from Mom’s side, or at least through one line, but probably somewhat distant since that one segment is his only match on any chromosome. Because he also matches me on a segment where he doesn’t match Mom, he could also be related to me on my father’s side, or maybe we had a misread error on the black segment when comparing to Mom’s DNA. It is the adjoining segment. In essence, there isn’t enough information to do much with this, except ask questions, so let’s move on to something more informative.

Beginning with the third person, the next grouping or cluster is entirely non-matching to mother, so this entire cluster is from my father’s side AND related to each other.

There are 6 solid matches here, and then they start to trail off to matches that aren’t so solid.

By flying over the match names with my cursor, I might be able to tell, based on their surnames, which line is being represented by this cluster of matches. If I already have a confirmed cousin match in the group, then the rest of the group can be loosely attributed to that line, or a contributing (wife) line. Unfortunately, in this case, I can’t tell other than it looks like it might be through Halifax County, VA. I do have an NPE there and some wives without surnames.

Let’s look on down this chromosome. There is another very solid cluster, also on my Dad’s side. In this second cluster, I have identified a solid cousin and I can tell you that this is a Crumley grouping. My common ancestor with my Crumley cousin is William Crumley born about 1765 in Frederick Co., Va. and who died about 1840 in Lee Co., Va. His wife is unknown, but we have her mitochondrial DNA. Now this doesn’t mean that everyone in this group will all have a Crumley ancestor, they may not. They may instead have a Mercer, a Brown, a Johnson or a Gilkey, all known wives’ surnames of Crumley men upstream of William Crumley. But someplace, there is a common ancestor who contributed quite a bit of chromosome 1 to a significant number of descendants, and at least two of them are Crumleys.

At first, I found it really odd that my mother had almost no matches with me on chromosome 1. Some of my mother’s ancestors came to the States later, from the Netherlands and from Germany. Many of these groups are under-represented in testing. However other ancestral groups have been here a long time, Acadians and Brethren Germans. My father’s Appalachian, meaning colonial, ancestors seem to have more descendants who have tested.

However, looking now at chromosome 9, we see something different.

The second person, Doris, doesn’t match Mom anyplace, so is obviously related through my father, but look at that next grouping.

I can tell you based on hovering over the matches name that this is an Acadian grouping. The Acadians are a very endogamous French-Canadian group, having passed the same DNA around for hundreds of years. Therefore, a grouping is likely to share a large amount of common DNA, and this one does.

Based on this, I can then label all of these various matches as “Acadian” if nothing more.

Within a cluster, if I can identify one common ancestor, I can attribute the entire large group to the same lineage. Be careful with smaller groups or just one or two rectangle matches. Those aren’t nearly as strong and just because I match 2 people on the same segment doesn’t mean they match each other. However, when you see large segments of people matching each other, you have an ancestral grouping of some sort. The challenge of course is to identify the group – but a breakthrough with one match means a likely breakthrough with the rest of them too, or at least another step in that direction.

2. Source of DNA

I have several cousins who match me on two or more distinct lines. This tool makes it easy, in some cases, to see which line the DNA on a particular chromosome comes from.

I have both Claxton (James Lee Claxton/Clarkson born c 1775-1815 and Sarah Cook of Hancock Co., TN) and Campbell (John Campbell b c 1772-1838 and Jane Dobkins born c 1780-1850/1860 of Claiborne Co., Tn.) ancestry. My cousins, Joy and William do too. In this case, you can see that Joy matches a Claxton (proven by Y DNA to be from our line) and so does William on the first green matching segment. The second green segment is not found in the Claxton match, so it could be Claxton and the Claxton cousin didn’t receive it, or it could be Campbell, but it’s one or the other because Joy, William and I all three carry this segment.

What this means is that the light green segments are Claxton segments, as are the fuchsia segments. The source of the darker green segment is unknown. It could be either Claxton or Campbell or a third common line that we don’t know about.

3. Untangling Those Darned Moores

I swear, the Moore family is going to be the death of me yet. It’s one of my long-standing, extremely difficult brick walls. It seems like every road of every county in Virginia and NC had one or more Moore families. It’s a very common name. To make thing worse, the early Moores were very prolific and they all named their children the same names, like James and William, generation after generation.

The earliest sign I can find of my particular Moore family is in Prince Edward County, Virginia when James Moore married Mary Rice (daughter of Joseph Rice and wife Rachel) in the early 1740s. By the 1770s, the family was living in Halifax County, Virginia and their children were marrying and having children of their own of course. They were some of the early Methodists with their son, the Reverend William Moore being a dissenting minister in Halifax County and his brothers Rice and Mackness Moore doing the same in Hawkins and Grainger County, TN. Another son, James, went to Surry Co., NC. We have confirmed this with a DNA descendant match.

We have the DNA of our Moore line proven on the Y side through multiple sons. At the Moore Worldwide DNA project, we are group 19. Now there are Moores all over the place in Halifax County. I know, because I’ve paid for about half of them to DNA test and there are several distinct lines – far more than I expected. Ironically, the Anderson Moore family who lived across the road from our James and then his son Rev. William, who raised the orphan Raleigh Moore, grandson of the Rev. William Moore, is NOT of the same Moore DNA line. Based on the interaction of these two families, one would think assuredly that they were, which raises questions. This Anderson Moore was the son of yet another James Moore, this one from Amelia County, VA., found in the large group 1 of the Moore project. If this is all just too confusing and too close for comfort for you, well, join the crowd and what we Moore descendants have been dealing with for a decade now.

This raises the question of why there are so few matches to our Moore line. Was our Moore line a “new Moore line,” born perhaps to a Moore daughter who gave the child her surname. However, the child of course would pass on the father’s Y chromosome, establishing a “new” Moore genetic line. I’m not saying that is what happened, just that it’s odd that there are so few matches to a clearly colonial Moore line out of Virginia. With only one exception, someone genealogically stuck in Kentucky, to date, all DNA matches are all descendants of our James. We do know that there was a William Moore, wife Margaret, living adjacent to James Moore in Prince Edward County but he and his wife sold out and moved on and are unaccounted for.

So you can see why I get excited when I find anything at all, and I mean anything, about the Moore family line.

A Moore descendant of Raleigh, the orphan, has taken the autosomal Family Finder test, and he matched my cousin Buster, a known Moore descendant, and also another Cumberland Gap region researcher, Larry. Larry also matches Buster. I was very excited to see this three way match and I wrote to Larry asking if he had a Moore line. Yes, he did, two in fact. The Levi Moore line out of Kentucky and an Alexander Moore line out of Stokes County, NC, after they wandered down from Berks Co., PA. sometime before 1803.

Groan. Two Moores – I can’t even manage to sort one out, how will I ever sort two?

Then Larry told me that he had 4 of his cousins tested too. Bless you Larry.

And better yet, one of Larry’s Moore lines is on his mother’s side and one on his father’s. Even better yet. Things are improving.

Now I’m really excited, right up until I discover that my cousin Buster matches two of Larry’s 3 cousins on his mother’s side and my Moore cousin from Halifax County, Virginia, matches the cousin on Larry’s father’s side.

How could I be THIS unlucky???

So I started out utilizing the ICW and Matrix tools at Family Tree DNA. Because these people all matched Larry on overlapping segments on the chromosome browser, my first thought was maybe that these two Moore lines were really one and the same. But then I pushed the ICW matches through to the Family Finder Matrix, and no, Larry’s paternal cousin does not match any of the three maternal cousins, who all match each other. So the two Moore families are not one and the same.

Crumb. Thank Heavens though for the Matrix which provides proof positive of whether your matches match each other. Remember, you have two sides to each chromosome and you will have matches to both sides. Without the Matrix tool, you have no way of knowing which of your matches are from the same side of your chromosome, meaning Mom’s side or Dad’s side.

Just about this time, as I was beginning to construct matrixes of who matches whom in the ICW compares between all of the ICW match permutations, I received a note from Don that he wanted beta testers for his new ADSA application. I immediately knew what I was going to test!

I started with my cousin Buster’s kit. Buster is one generation upstream from me, so one generation closer to the Moore ancestors.

On Larry’s maternal line, descended from the Levi Moore (Ky) line, he tested three cousins. Buster had the following match results with Larry and his maternal line cousins.

Larry – match

Janice – no match

Ronald – match

B.J. – match

I have redacted the e-mails and surnames below, but want to draw your attention to the individuals with the red arrows, as noted above.

On the graphic below, I’m showing only the right side, so you can see the matching ICW (in common with) block patterns. Larry is last, I’m second from last and Larry’s two cousins are the first and second red arrows. We are all matching to my cousin, Buster.

You can see that all of these people match Buster. Larry has blocks that are pink, red, fuchsia, gold, navy blue and lime green. All of the group above, except me and two other people, one of which is my known cousin on another line, match Larry on these blocks, or at least most of these blocks. I, however, match none of this group on none of these blocks, nor do my other known cousins who also descend through this same Moore line. This means that this group matches Buster through Buster’s mother’s line, not through the Estes line, which means that this Moore line is not the James Moore line of Halifax County. So the Levi Moore group of Kentucky is not descended from the James Moore group of Prince Edward and Halifax County.

Of course, I’m disappointed, but eliminating possibilities is just as important as confirming them. I keep telling myself that anyway.

The male Moore descendant in Halifax Co., proven via Y line testing, does match with Chloa, Larry’s paternal cousin, and with Larry as well, as shown below. Let’s see if we can discern any other people who match in a cluster, which would give us other people to contact about their Moore lines. Keep in mind that we don’t know that the DNA in common here is from the Moore line. It could come from another common line. That is part of what we’d like to prove.

Let’s take a closer look at what this is telling us.

First, there’s a much smaller group, and this is the only chromosome where Chloa matches our Moore cousin.

So let’s look at each line. The first person, John, doesn’t match anyone else, so he’s not in this group.

Larry and his cousin, Chloa are second and third from the bottom, and they form the match group. You can see that they match exactly except Chloa has one brighter green segment that matches our Moore cousin in a location with no other matches. However, the match group of navy blue, periwinkle, lime green and burgundy form a distinctive pattern. In addition to Chloa and Larry, Virginia, and Arlina share the same segments, plus Arlina had a pink segment that Larry and Chloa don’t have. Donald may be a cousin too, but we don’t know if Donald would also match the rest of the group. Linda might match Donald, but doesn’t look like she matches the group, but she could. At this point, we can drop back to Family Tree DNA and the matrix and take a look to see if these folks match each other in the way we’d expect based on the ADSA tool.

Just like we expected, John doesn’t match anyone. As expected, Larry, Chloa, Arlina, and Virginia all matched each other. As it turns out, Linda does not match the rest of the group, but she does match Donald, who does match Arlina. Therefore, our focus needs to be on contacting Arlina, Donald and Virginia and asking them about their Moore lines, or the surnames of known Moore wives, such as Rice in my James Moore line or wives surnames in Larry’s Moore line. Just on the basis of possibility, I would also contact Linda and ask, but she is the long shot. However, like the lottery, you can’t win if you don’t play, so just send that one extra e-mail. You never know. Life is made up of stories about serendipity and opportunities almost missed.

If Larry’s Moore line is the same as our Moore cousin’s line, genetically, maybe we can make headway by tracking Larry’s line. Larry was kind enough to provide me with a website, and his Moore line begins with daughter Sarah. Her father is Alexander Moore born in 1730 who married Elizabeth Wright. His father was Alexander born in 1710 and who lived in Bucks Co., PA. The younger Alexander died in Stokes Co., NC in 1803.

Our next step is to see if this Alexander Moore line has been Y DNA tested. Checking back at the Moore Worldwide project, this family line is not showing, but I’ve dropped a note to the administrators, just the same. Unfortunately, not everyone enters their most distant ancestor information which means that information is blank on the project website.

If this Alexander Moore line has been Y tested, then we already know they don’t match our group paternally. The connection, in that case, if this genetic connection is a Moore line, could be due to a daughter birth. If this Moore line has not been Y tested, then it means that I’ll be trying to track down a Moore descendant of one of these Alexander Moores to do the DNA test. It would be wonderful to finally make some headway on the James Moore family. We’ve been brick walled for such a long time.

If you descend from either of these Moore family lines, the James Moore (c 1720-c 1798) and Mary Rice line, or the Alexander Moore and Elizabeth Wright or Elizabeth Robinson line, please consider taking the Family Finder autosomal DNA test at Family Tree DNA. If you know of a male Moore who descends from the Alexander Moore line, let’s see if he would be willing to Y DNA test.

There is a great deal of power in the combined results of descendants, as you can clearly see, thanks to Don Worth and his new Autosomal DNA Segment Analyzer tool.

Last year I wrote a column at the end of the year titled “2012 Top 10 Genetic Genealogy Happenings.” It’s amazing the changes in this industry in just one year. It certainly makes me wonder what the landscape a year from now will look like.

I’ve done the same thing this year, except we have a dozen. I couldn’t whittle it down to 10, partly because there has been so much more going on and so much change – or in the case of Ancestry, who is noteworthy because they had so little positive movement.

If I were to characterize this year of genetic genealogy, I would call it The Year of the SNP, because that applies to both Y DNA and autosomal. Maybe I’d call it The Legal SNP, because it is also the year of law, court decisions, lawsuits and FDA intervention. To say it has been interesting is like calling the Eiffel Tower an oversized coat hanger.

I’ll say one thing…it has kept those of us who work and play in this industry hopping busy! I guarantee you, the words “I’m bored” have come out of the mouth of no one in this industry this past year.

I’ve put these events in what I consider to be relatively accurate order. We could debate all day about whether the SNP Tsunami or the 23andMe mess is more important or relevant – and there would be lots of arguing points and counterpoints…see…I told you lawyers were involved….but in reality, we don’t know yet, and in the end….it doesn’t matter what order they are in on the list:)

Y Chromosome SNP Tsunami Begins

The SNP tsumani began as a ripple a few years ago with the introduction at Family Tree DNA of the Walk the Y program in 2007. This was an intensively manual process of SNP discovery, but it was effective.

By the time that the Geno 2.0 chip was introduced in 2012, 12,000+ SNPs would be included on that chip, including many that were always presumed to be equivalent and not regularly tested. However, the Nat Geo chip tested them and indeed, the Y tree became massively shuffled. The resolution to this tree shuffling hasn’t yet come out in the wash. Family Tree DNA can’t really update their Y tree until a publication comes out with the new tree defined. That publication has been discussed and anticipated for some time now, but it has yet to materialize. In the mean time, the volunteers who maintain the ISOGG tree are swamped, to say the least.

Another similar test is the Chromo2 introduced this year by Britain’s DNA which scans 15,000 SNPs, many of them S SNPs not on the tree nor academically published, adding to the difficulty of figuring out where they fit on the Y tree. While there are some very happy campers with their Chromo2 results, there is also a great deal of sloppy science, reporting and interpretation of “facts” through this company. Kind of like Jekyll and Hyde. See the Sloppy Science section.

But Walk the Y, Chromo2 and Geno 2.0, are only the tip of the iceburg. The new “full Y” sequencing tests brought into the marketspace quietly in early 2013 by Full Genomes and then with a bang by Family Tree DNA with the their Big Y in November promise to revolutionize what we know about the Y chromosome by discovering thousands of previously unknown SNPs. This will in effect swamp the Y tree whose branches we thought were already pretty robust, with thousands and thousands of leaves.

In essence, the promise of the “fully” sequenced Y is that what we might term personal or family SNPs will make SNP testing as useful as STR testing and give us yet another genealogy tool with which to separate various lines of one genetic family and to ratchet down on the time that the most common recent ancestor lived.

The story of 23andMe began as the consummate American dotcom fairy tale, but sadly, has deteriorated into a saga with all of the components of a soap opera. A wealthy wife starts what could be viewed as an upscale hobby business, followed by a messy divorce and a mystery run-in with the powerful overlording evil-step-mother FDA. One of the founders of 23andMe is/was married to the founder of Google, so funding, at least initially wasn’t an issue, giving 23andMe the opportunity to make an unprecedented contribution in the genetic, health care and genetic genealogy world.

Another way of looking at this is that 23andMe is the epitome of the American Dream business, a startup, with altruism and good health, both thrown in for good measure, well intentioned, but poorly managed. And as customers, be it for health or genealogy or both, we all bought into the altruistic “feel good” culture of helping find cures for dread diseases, like Parkinson’s, Alzheimer’s and cancer by contributing our DNA and responding to surveys.

The genetic genealogy community’s love affair with 23andMe began in 2009 when 23andMe started focusing on genealogy reporting for their tests, meaning cousin matches. We, as a community, suddenly woke up and started ordering these tests in droves. A few months later, Family Tree DNA also began offering this type of testing as well. The defining difference being that 23andMe’s primary focus has always been on health and medical information with Family Tree DNA focused on genetic genealogy. To 23andMe, the genetic genealogy community was an afterthought and genetic genealogy was just another marketing avenue to obtain more people for their health research data base. For us, that wasn’t necessarily a bad thing.

For awhile, this love affair went along swimmingly, but then, in 2012, 23andMe obtained a patent for Parkinson’s Disease. That act caused a lot of people to begin to question the corporate focus of 23andMe in the larger quagmire of the ethics of patenting genes as a whole. Judy Russell, the Legal Genealogist, discussed this here. It’s difficult to defend 23andMe’s Parkinson’s patent while flaying alive Myriad for their BRCA patent. Was 23andMe really as altruistic as they would have us believe?

Personally, this event made me very nervous, but I withheld judgment. But clearly, that was not the purpose for which I thought my DNA, and others, was being used.

But then came the Designer Baby patent in 2013. This made me decidedly uncomfortable. Yes, I know, some people said this really can’t be done, today, while others said that it’s being done anyway in some aspects…but the fact that this has been the corporate focus of 23andMe with their research, using our data, bothered me a great deal. I have absolutely no issue with using this information to assure or select for healthy offspring – but I have a personal issue with technology to enable parents who would select a “beauty child,” one with blonde hair and blue eyes and who has the correct muscles to be a star athlete, or cheerleader, or whatever their vision of their as-yet-unconceived “perfect” child would be. And clearly, based on 23andMe’s own patent submission, that is the focus of their patent.

Upon the issuance of the patent, 23andMe then said they have no intention of using it. They did not say they won’t sell it. This also makes absolutely no business sense, to focus valuable corporate resources on something you have no intention of using? So either they weren’t being truthful, they lack effective management or they’ve changed their mind, but didn’t state such.

What came next, in late 2013 certainly points towards a lack of responsible management.

23andMe had been working with the FDA for approval the health and medical aspect of their product (which they were already providing to consumers prior to the November 22nd cease and desist order) for several years. The FDA wants assurances that what 23andMe is telling consumers is accurate. Based on the letter issued to 23andMe on November 22nd, and subsequent commentary, it appears that both entities were jointly working towards that common goal…until earlier this year when 23andMe mysteriously “somehow forgot” about the FDA, the information they owed them, their submissions, etc. They also forgot their phone number and their e-mail addresses apparently as well, because the FDA said they had heard nothing from them in 6 months, which backdates to May of 2013.

It may be relevant that 23andMe added the executive position of President and filled it in June of 2013, and there was a lot of corporate housecleaning that went on at that time. However, regardless of who got housecleaned, the responsibility for working with the FDA falls squarely on the shoulders of the founders, owners and executives of the company. Period. No excuses. Something that critically important should be on the agenda of every executive management meeting. Why? In terms of corporate risk, this was obviously a very high risk item, perhaps the highest risk item, because the FDA can literally shut their doors and destroy them. There is little they can do to control or affect the FDA situation, except to work with the FDA, meet deadlines and engender goodwill and a spirit of cooperation. The risk of not doing that is exactly what happened.

It’s unknown at this time if 23andMe is really that corporately arrogant to think they could simply ignore the FDA, or blatantly corporately negligent or maybe simply corporately stupid, but they surely betrayed the trust and confidence of their customers by failing to meet their commitments with and to the FDA, or even communicate with them. I mean, really, what were they thinking?

There has been an outpouring of sympathy for 23andme and negative backlash towards the FDA for their letter forcing 23andMe to stop selling their offending medical product, meaning the health portion of their testing. However, in reality, the FDA was only meting out the consequences that 23andMe asked for. My teenage kids knew this would happen. If you do what you’re not supposed to….X, Y and Z will, or won’t, happen. It’s called accountability. Just ask my son about his prom….he remembers vividly. Now why my kids, or 23andMe, would push an authority figure to that point, knowing full well the consequences, utterly mystifies me. It did when my son was a teenager and it does with 23andMe as well.

Some people think that the FDA is trying to stand between consumers and their health information. I don’t think so, at least not in this case. Why I think that is because the FDA left the raw data files alone and they left the genetic genealogy aspect alone. The FDA knows full well you can download your raw data and for $5 process it at a third party site, obtaining health related genetic information. The difference is that Promethease is not interpreting any data for you, only providing information.

There is some good news in this and that is that from a genetic genealogy perspective, we seem to be safe, at least for now, from government interference with the testing that has been so productive for genetic genealogy. The FDA had the perfect opportunity to squish us like a bug (thanks to the opening provided by 23andMe,) and they didn’t.

The really frustrating aspect of this is that 23andMe was a company who, with their deep pockets in Silicon Valley and other investors, could actually afford to wage a fight with the FDA, if need be. The other companies who received the original 2010 FDA letter all went elsewhere and focused on something else. But 23andMe didn’t, they decided to fight the fight, and we all supported their decision. But they let us all down. The fight they are fighting now is not the battle we anticipated, but one brought upon themselves by their own negligence. This battle didn’t have to happen, and it may impair them financially to such a degree that if they need to fight the big fight, they won’t be able to.

Right now, 23andMe is selling their kits, but only as an ancestry product as they work through whatever process they are working through with the FDA. Unfortunately, 23andMe is currently having some difficulties where the majority of matches are disappearing from some testers records. In other cases, segments that previously matched are disappearing. One would think, with their only revenue stream for now being the genetic genealogy marketspace that they would be wearing kid gloves and being extremely careful, but apparently not. They might even consider making some of the changes and enhancements we’ve requested for so long that have fallen on deaf ears.

One thing is for sure, it will be extremely interesting to see where 23andMe is this time next year. The soap opera continues.

I hope for the sake of all of the health consumers, both current and (potentially) future, that this dotcom fairy tale has a happy ending.

In a landmark decision, the Supreme Court determined that genes cannot be patented. Myriad Genetics held patents on two BRCA genes that predisposed people to cancer. The cost for the tests through Myriad was about $3000. Six hours after the Supreme Court decision, Gene By Gene announced that same test for $995. Other firms followed suit, and all were subsequently sued by Myriad for patent infringement. I was shocked by this, but as one of my lawyer friends clearly pointed out, you can sue anyone for anything. Making it stick is yet another matter. Many firms settle to avoid long and very expensive legal battles. Clearly, this issue is not yet resolved, although one would think a Supreme Court decision would be pretty definitive. It potentially won’t be settled for a long time.

As 23andMe comes unraveled and Ancestry languishes in its mediocrity, Gene by Gene, the parent company of Family Tree DNA has stepped up to the plate, committed to do “whatever it takes,” ramped up the staff both through hiring and acquisitions, and is producing results. This is, indeed, a breath of fresh air for genetic genealogists, as well as a welcome relief.

Autosomal DNA testing and analysis has simply exploded this past year. More and more people are testing, in part, because Ancestry.com has a captive audience in their subscription data base and more than a quarter million of those subscribers have purchased autosomal DNA tests. That’s a good thing, in general, but there are some negative aspects relative to Ancestry, which are in the Ancestry section.

Another boon to autosomal testing was the 23andMe push to obtain a million records. Of course, the operative word here is “was” but that may revive when the FDA issue is resolved. One of the down sides to the 23andMe data base, aside from the fact that it’s not genealogist friendly, is that so many people, about 90%, don’t communicate. They aren’t interested in genealogy.

A third factor is that Family Tree DNA has provided transfer ability for files from both 23andMe and Ancestry into their data base.

Fourth is the site, GedMatch, at www.gedmatch.com which provides additional matching and admixture tools and the ability to match below thresholds set by the testing companies. This is sometimes critically important, especially when comparing to known cousins who just don’t happen to match at the higher thresholds, for example. Unfortunately, not enough people know about GedMatch, or are willing to download their files. Also unfortunate is that GedMatch has struggled for the past few months to keep up with the demand placed on their site and resources.

A great deal of time this year has been spent by those of us in the education aspect of genetic genealogy, in whatever our capacity, teaching about how to utilize autosomal results. It’s not necessarily straightforward. For example, I wrote a 9 part series titled “The Autosomal Me” which detailed how to utilize chromosome mapping for finding minority ethnic admixture, which was, in my case, both Native and African American.

As the year ends, we have Family Tree DNA, 23andMe and Ancestry who offer the autosomal test which includes the relative-matching aspect. Fortunately, we also have third party tools like www.GedMatch.com and www.DNAGedcom.com, without which we would be significantly hamstrung. In the case of DNAGedcom, we would be unable to perform chromosome segment matching and triangulation with 23andMe data without Rob Warthen’s invaluable tool.

While this tool, www.dnagedcom.com, falls into the Autosomal grouping, I have separated it out for individual mention because without this tool, the progress made this year in autosomal DNA ancestor and chromosomal mapping would have been impossible. Family Tree DNA has always provided segment matching boundaries through their chromosome browser tool, but until recently, you could only download 5 matches at a time. This is no longer the case, but for most of the year, Rob’s tool saved us massive amounts of time.

23andMe does not provide those chromosome boundaries, but utilizing Rob’s tool, you can obtain each of your matches in one download, and then you can obtain the list of who your matches match that is also on your match list by requesting each of those files separately. Multiple steps? Yes, but it’s the only way to obtain this information, and chromosome mapping without the segment data is impossible

A special hats off to Rob. Please remember that Rob’s site is free, meaning it’s donation based. So, please donate if you use the tool.

I covered www.Gedmatch.com in the “Best of 2012” list, but they have struggled this year, beginning when Ancestry announced that raw data file downloads were available. GedMatch consists of two individuals, volunteers, who are still struggling to keep up with the required processing and the tools. They too are donation based, so don’t forget about them if you utilize their tools.

Ancestry – How Great Thou Aren’t

Ancestry is only on this list because of what they haven’t done. When they initially introduced their autosomal product, they didn’t have any search capability, they didn’t have a chromosome browser and they didn’t have raw data file download capability, all of which their competitors had upon first release. All they did have was a list of your matches, with their trees listed, with shakey leaves if you shared a common ancestor on your tree. The implication, was, and is, of course, that if you have a DNA match and a shakey leaf, that IS your link, your genetic link, to each other. Unfortunately, that is NOT the case, as CeCe Moore documented in her blog from Rootstech (starting just below the pictures) as an illustration of WHY we so desperately need a chromosome browser tool.

In a nutshell, Ancestry showed the wrong shakey leaf as the DNA connection – as proven by the fact that both of CeCe’s parents have tested at Ancestry and the shakey leaf person doesn’t match the requisite parent. And there wasn’t just one, not two, but three instances of this. What this means is, of course, that the DNA match and the shakey leaf match are entirely independent of each other. In fact, you could have several common ancestors, but the DNA at any particular location comes only from one on either Mom or Dad’s side – any maybe not even the shakey leaf person.

So what Ancestry customers are receiving is a list of people they match and possible links, but most of them have no idea that this is the case, and blissfully believe they have found their genetic connection. They have found a genealogical cousin, and it MIGHT be the genetic connection. But then again, they could have found that cousin simply by searching for the same ancestor in Ancestry’s data base. No DNA needed.

Ancestry has added a search feature, allowed raw data file downloads (thank you) and they have updated their ethnicity predictions. The ethnicity predictions are certainly different, dramatically different, but equally as unrealistic. See the Ethnicity Makeovers section for more on this. The search function helps, but what we really need is the chromosome browser, which they have steadfastly avoided promising. Instead, they have said that they will give us “something better,” but nothing has materialized.

I want to take this opportunity, to say, as loudly as possible, that TRUST ME IS NOT ACCEPTABLE in any way, shape or form when it comes to genetic matching. I’m not sure what Ancestry has in mind by the way of “better,” but it if it’s anything like the mediocrity with which their existing DNA products have been rolled out, neither I nor any other serious genetic genealogist will be interested, satisfied or placated.

Regardless, it’s been nearly 2 years now. Ancestry has the funds to do development. They are not a small company. This is obviously not a priority because they don’t need to develop this feature. Why is this? Because they can continue to sell tests and to give shakey leaves to customers, most of whom don’t understand the subtle “untruth” inherent in that leaf match – so are quite blissfully happy.

In years past, I worked in the computer industry when IBM was the Big Dog against whom everyone else competed. I’m reminded of an old joke. The IBM sales rep got married, and on his wedding night, he sat on the edge of the bed all night long regaling his bride in glorious detail with stories about just how good it was going to be….

You can sign a petition asking Ancestry to provide a chromosome browser here, and you can submit your request directly to Ancestry as well, although to date, this has not been effective.

The most frustrating aspect of this situation is that Ancestry, with their plethora of trees, savvy marketing and captive audience testers really was positioned to “do it right,” and hasn’t, at least not yet. They seem to be more interested in selling kits and providing shakey leaves that are misleading in terms of what they mean than providing true tools. One wonders if they are afraid that their customers will be “less happy” when they discover the truth and not developing a chromosome browser is a way to keep their customers blissfully in the dark.

This has been a huge year for advances in sequencing ancient DNA, something once thought unachievable. We have learned a great deal, and there are many more skeletal remains just begging to be sequenced. One absolutely fascinating find is that all people not African (and some who are African through backmigration) carry Neanderthal and Denisovan DNA. Just this week, evidence of yet another archaic hominid line has been found in Neanderthal DNA and on Christmas Day, yet another article stating that type 2 Diabetes found in Native Americans has roots in their Neanderthal ancestors. Wow!

Closer to home, by several thousand years is the suggestion that haplogroup R did not exist in Europe after the ice age, and only later, replaced most of the population which, for males, appears to have been primarily haplogroup G. It will be very interesting as the data bases of fully sequenced skeletons are built and compared. The history of our ancestors is held in those precious bones.

Unfortunately, as DNA becomes more mainstream, it becomes a target for both sloppy science or intentional misinterpretation, and possibly both. Unfortunately, without academic publication, we can’t see results or have the sense of security that comes from the peer review process, so we don’t know if the science and conclusions stand up to muster.

The race to the buck in some instances is the catalyst for this. In other cases, and not in the links below, some people intentionally skew interpretations and results in order to either fulfill their own belief agenda or to sell “products and services” that invariably report specific findings.

It’s equally as unfortunate that much of these misconstrued and sensationalized results are coming from a testing company that goes by the names of BritainsDNA, ScotlandsDNA, IrelandsDNA and YorkshiresDNA. It certainly does nothing for their credibility in the eyes of people who are familiar with the topics at hand, but it does garner a lot of press and probably sells a lot of kits to the unwary.

I hope they publish their findings so we can remove the “sloppy science” aspect of this. Sensationalist reporting, while irritating, can be dealt with if the science is sound. However, until the results are published in a peer-reviewed academic journal, we have no way of knowing.

Thankfully, Debbie Kennett has been keeping her thumb on this situation, occurring primarily in the British Isles.

Citizen science has been slowing coming of age over the past few years. By this, I mean when citizen scientists work as part of a team on a significant discovery or paper. Bill Hurst comes to mind with his work with Dr. Doron Behar on his paper, A Copernican Reassessment of the Human Mitochondrial DNA from its Root or what know as the RSRS model. As the years have progressed, more and more discoveries have been made or assisted by citizen scientists, sometimes through our projects and other times through individual research. JOGG, the Journal of Genetic Genealogy, which is currently on hiatus waiting for Dr. Turi King, the new editor, to become available, was a great avenue for peer reviewed publication. Recently, research projects have been set up by citizen scientists, sometimes crowd-funded, for specific areas of research. This is a very new aspect to scientific research, and one not before utilized.

The first paper below includes the Family Tree DNA Lab, Thomas and Astrid Krahn, then with Family Tree DNA and Bonnie Schrack, genetic genealogist and citizen scientist, along with Dr. Michael Hammer from the University of Arizona and others.

Unfortunately, ethnicity percentages, as provided by the major testing companies still disappoint more than thrill, at least for those who have either tested at more than one lab or who pretty well know their ethnicity via an extensive pedigree chart.

Ancestry.com is by far the worse example, swinging like a pendulum from one extreme to the other. But I have to hand it to them, their marketing is amazing. When I signed in, about to discover that my results had literally almost reversed, I was greeted with the banner “a new you.” Yea, a new me, based on Ancestry’s erroneous interpretation. And by reversed, I’m serious. I went from 80% British Isles to 6% and then from 0% Western Europe to 79%. So now, I have an old wrong one and a new wrong one – and indeed they are very different. Of course, neither one is correct…..but those are just pesky details…

23andMe updated their ethnicity product this year as well, and fine tuned it yet another time. My results at 23andMe are relatively accurate. I saw very little change, but others saw more. Some were pleased, some not.

The bottom line is that ethnicity tools are not well understood by consumers in terms of the timeframe that is being revealed, and it’s not consistent between vendors, nor are the results. In some cases, they are flat out wrong, as with Ancestry, and can be proven. This does not engender a great deal of confidence. I only view these results as “interesting” or utilize them in very specific situations and then only using the individual admixture tools at www.Gedmatch.com on individual chromosome segments.

As Judy Russell says, “it’s not soup yet.” That doesn’t mean it’s not interesting though, so long as you understand the difference between interesting and gospel.

With the explosion of genetic genealogy testing, as one might expect, the demand for education, and in particular, basic education has exploded as well.

I’ve written a 101 series, Kelly Wheaton wrote a series of lessons and CeCe Moore did as well. Recently Family Tree DNA has also sponsored a series of free Webinars. I know that at least one book is in process and very near publication, hopefully right after the first of the year. We saw several conferences this year that provided a focus on Genetic Genealogy and I know several are planned for 2014. Genetic genealogy is going mainstream!!! Let’s hope that 2014 is equally as successful and that all these folks asking for training and education become avid genetic genealogists.

I want to close by taking a minute to thank the thousands of volunteers who make such a difference. All of the project administrators at Family Tree DNA are volunteers, and according to their website, there are 7829 projects, all of which have at least one administrator, and many have multiple administrators. In addition, everyone who answers questions on a list or board or on Facebook is a volunteer. Many donate their time to coordinate events, groups, or moderate online facilities. Many speak at events or for groups. Many more write articles for publications from blogs to family newsletters. Additionally, there are countless websites today that include DNA results…all created and run by volunteers, not the least of which is the ISOGG site with the invaluable ISOGG wiki. Without our volunteer army, there would be no genetic genealogy community. Thank you, one and all.

2013 has been a banner year, and 2014 holds a great deal of promise, even without any surprises. And if there is one thing this industry is well known for….it’s surprises. I can’t wait to see what 2014 has in store for us!!! All I can say is hold on tight….